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  • ClinVar (16)

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Displaying 16 of 16 results for "DRC1"
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Title type Taxonomic Information Alternate Identifiers
NM_145038.4(DRC1):c.352C>T (p.Gln118Ter) AND Ciliary dyskinesia, primary, 21 Variation human SCV000077514
NM_145038.4(DRC1):c.2056A>T (p.Lys686Ter) AND Ciliary dyskinesia, primary, 21 Variation human SCV000077513
NM_145038.4(DRC1):c.1195T>C (p.Trp399Arg) AND not specified Variation human SCV000316075
NM_145038.4(DRC1):c.495T>G (p.Ala165=) AND not specified Variation human SCV000316077
NM_145038.4(DRC1):c.1720_1734delAAGGCGAGCATGGAG (p.Lys574_Glu578del) AND Primary ciliary dyskinesia Variation human SCV000291461
NM_145038.4(DRC1):c.2166+6C>T AND Primary ciliary dyskinesia Variation human SCV000291464
NM_145038.4(DRC1):c.1976C>T (p.Ser659Leu) AND Primary ciliary dyskinesia Variation human SCV000291462
NM_145038.4(DRC1):c.352C>T (p.Gln118Ter) AND Kartagener syndrome Variation human SCV000245821
NM_145038.4(DRC1):c.36G>C (p.Pro12=) AND Primary ciliary dyskinesia Variation human SCV000291465
NM_145038.4(DRC1):c.2001A>G (p.Thr667=) AND Primary ciliary dyskinesia Variation human SCV000291463
NM_145038.4(DRC1):c.*9G>A AND not specified Variation human SCV000316074
NM_145038.4(DRC1):c.2056A>T (p.Lys686Ter) AND Kartagener syndrome Variation human SCV000245822
NM_145038.4(DRC1):c.1397-15A>G AND not specified Variation human SCV000316076
NM_145038.4(DRC1):c.15G>A (p.Gly5=) AND Primary ciliary dyskinesia Variation human SCV000291460
NM_145038.4(DRC1):c.495T>A (p.Ala165=) AND Primary ciliary dyskinesia Variation human SCV000291466
NM_145038.4(DRC1):c.1492C>G (p.Leu498Val) AND Primary ciliary dyskinesia Variation human SCV000291459