ClinVar Miner

List of variants reported as benign for X-linked mixed hearing loss with perilymphatic gusher

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_000307.5(POU3F4):c.*22C>G rs201213510 0.00009
NM_000307.5(POU3F4):c.708= (p.Glu236=) rs5921978
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_001110219.3(GJB6):c.*227dup rs368264636

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