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Displaying 20 of 210,743 results for " "
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  1. NM_000229.1(LCAT):c.440C>T (p.Thr147Ile) AND Fish-eye disease ClinVar

    Type: Variation

    Species: human

  2. NM_000375.2(UROS):c.10C>T (p.Leu4Phe) AND Congenital erythropoietic porphyria ClinVar

    Type: Variation

    Species: human

  3. NM_000155.3(GALT):c.580T>C (p.Phe194Leu) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar

  4. NM_000155.3(GALT):c.130G>A (p.Val44Met) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar

  5. MPO, -463G-A AND Alzheimer disease, susceptibility to ClinVar

    Type: Variation

    Species: human

  6. TRPM6, 1-BP DEL, 2207G AND Hypomagnesemia 1, intestinal ClinVar

    Type: Variation

    Species: human

  7. COG1, IVS6DS, G-A, +5 AND Congenital disorder of glycosylation type 2G ClinVar

    Type: Variation

    Species: human

  8. NM_000375.2(UROS):c.-26-197C>A AND Congenital erythropoietic porphyria ClinVar

    Type: Variation

    Species: human

  9. NM_000250.1(MPO):c.2031-2A>C AND Myeloperoxidase deficiency ClinVar

    Species: human

  10. NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) AND Oculocutaneous albinism type 1B ClinVar

    Type: Variation

    Species: human

  11. NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) AND Tyrosinase-negative oculocutaneous albinism ClinVar

  12. NM_000229.1(LCAT):c.475C>T (p.Arg159Trp) AND Norum disease ClinVar

    Type: Variation

    Species: human

  13. COG4, 400-KB DEL AND Congenital disorder of glycosylation type 2J ClinVar

    Type: Variation

    Species: human

  14. NM_000375.2(UROS):c.243A>T (p.Glu81Asp) AND Congenital erythropoietic porphyria ClinVar

    Type: Variation

    Species: human

  15. NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) AND Skin/hair/eye pigmentation 3, blue/green eyes ClinVar

    Type: Variation

    Species: human

  16. NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr) AND Hereditary C1 esterase inhibitor deficiency - dysfunctional factor ClinVar

    Type: Variation

    Species: human

  17. GALC, 30-KB DEL, IVS10 AND Galactosylceramide beta-galactosidase deficiency ClinVar

    Type: Variation

    Species: human

  18. NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) AND Tyrosinase-negative oculocutaneous albinism ClinVar

  19. NM_006623.3(PHGDH):c.1129G>A (p.Gly377Ser) AND Phosphoglycerate dehydrogenase deficiency ClinVar

    Type: Variation

    Species: human

  20. NM_000372.4(TYR):c.1112A>C (p.Asn371Thr) AND Tyrosinase-negative oculocutaneous albinism ClinVar

    Type: Variation

    Species: human


Displaying 20 of 210,743 results for " "