ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) rs794729639 0.00003
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048 0.00003
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg) rs781747541 0.00002
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser) rs1060499597
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) rs1060499599

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