ClinVar Miner

List of variants reported as pathogenic for nonsyndromic genetic hearing loss by WangQJ Lab, Chinese People's Liberation Army General Hospital

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.593_600+8del rs2129311772
NM_001384140.1(PCDH15):c.2756del (p.Met919fs) rs2134904455
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter) rs2128674939
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter) rs2148047301

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