ClinVar Miner

List of variants reported as pathogenic for autosomal dominant nonsyndromic hearing loss 10

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs) rs2128707546
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs) rs2128707619
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter) rs2128711268
NM_004100.5(EYA4):c.1282-12T>A rs2128781753
NM_004100.5(EYA4):c.1720_1722delTACinsAAA rs1800334076
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter) rs1554275988
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004100.5(EYA4):c.804+2T>A rs2128665071
NM_004100.5(EYA4):c.804+2del rs2128665075
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter) rs2128674939
NM_004100.5(EYA4):c.992dup (p.Ser331fs)

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