ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_153212.3(GJB4):c.109G>A (p.Val37Met) rs146378222 0.00028
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser) rs553336498 0.00001
NM_001042517.2(DIAPH3):c.2084_2088del (p.Glu695fs) rs749068924
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer) rs757421220
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943

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