ClinVar Miner

List of variants reported as 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: 42
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HGVS dbSNP gnomAD frequency
NM_002160.4(TNC):c.5317G>A (p.Val1773Met) rs137933052 0.00025
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu) rs145970949 0.00022
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met) rs151082668 0.00011
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) rs759107183 0.00002
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr) rs753896285 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_006005.3(WFS1):c.2612T>G (p.Val871Gly) rs764211494 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
15q15.3 deletion
9q21.11 duplication
NC_000009.11:g.71705804_71974823invdup
NC_000009.12:g.69090066_69225446dup
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter) rs2061464108
NM_001145809.2(MYH14):c.1368C>G (p.Tyr456Ter)
NM_002473.6(MYH9):c.2163T>G (p.Tyr721Ter)
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004100.5(EYA4):c.1720_1722delTACinsAAA rs1800334076
NM_004100.5(EYA4):c.1739-89_1739-85del rs1293390303
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004817.4(TJP2):c.2624T>C (p.Ile875Thr)
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) rs1775958137
NM_004999.4(MYO6):c.1473_1473+2delinsC rs878853225
NM_004999.4(MYO6):c.3765del (p.Cys1256fs) rs1582024232
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn) rs1303947821
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927
NM_006005.3(WFS1):c.2021G>A (p.Gly674Glu)
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_015205.3(ATP11A):c.3322_3327+2dup rs2140433062
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro) rs28937583
NM_139319.3(SLC17A8):c.43A>T (p.Lys15Ter)
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.[4057C>T];[4171C>G]

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