ClinVar Miner

List of variants reported as pathogenic for perceptual disorders by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194

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