ClinVar Miner

List of variants in gene ATP11A studied for autosomal dominant nonsyndromic hearing loss

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)
NM_015205.3(ATP11A):c.3322_3327+2dup rs2140433062
NM_015205.3(ATP11A):c.80A>G (p.Tyr27Cys)
NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)

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