ClinVar Miner

List of variants reported as likely benign for perceptual disorders by ClinGen Hearing Loss Variant Curation Expert Panel

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) rs199695398 0.00111
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln) rs200605472 0.00027
NM_005422.4(TECTA):c.487-7C>G rs368627411 0.00002
NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) rs752131356
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105

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