ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant nonsyndromic hearing loss by Laboratory of Prof. Karen Avraham, Tel Aviv University

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_001354587.1(ANKRD36):c.2479-1G>A rs200852589 0.00076
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val) rs146761713 0.00028
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_001145809.2(MYH14):c.4297G>A (p.Glu1433Lys) rs771755654 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) rs782165016 0.00002
NM_024009.3(GJB3):c.302G>A (p.Arg101Gln) rs765605645 0.00002
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg) rs534494159 0.00001
NM_001001331.4(ATP2B2):c.3430G>A (p.Val1144Met)
NM_001145809.2(MYH14):c.587G>T (p.Cys196Phe)
NM_001145809.2(MYH14):c.693+1G>A
NM_001191057.4(PDE1C):c.1900C>T (p.Gln634Ter)
NM_001191057.4(PDE1C):c.2061C>A (p.Tyr687Ter)
NM_001371333.1(DIABLO):c.248_251del (p.Asp83fs)
NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg)
NM_001378457.1(DMXL2):c.1463C>T (p.Thr488Met)
NM_001378457.1(DMXL2):c.5093A>G (p.Asn1698Ser)
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.4356G>A (p.Lys1452=)
NM_002160.4(TNC):c.2941G>A (p.Ala981Thr)
NM_002160.4(TNC):c.323G>A (p.Arg108His)
NM_002473.6(MYH9):c.280G>A (p.Glu94Lys)
NM_005422.4(TECTA):c.1301G>T (p.Gly434Val)
NM_005422.4(TECTA):c.569C>T (p.Thr190Met)
NM_005982.4(SIX1):c.353C>T (p.Pro118Leu)

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