ClinVar Miner

List of variants studied for Hearing impairment by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001042517.2(DIAPH3):c.517C>G (p.Gln173Glu) rs1594483260
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter) rs2134007236
NM_001354604.2(MITF):c.979A>C (p.Ile327Leu) rs2107529990
NM_004999.4(MYO6):c.2267T>A (p.Val756Glu) rs1777894570
NM_005422.4(TECTA):c.5272+4A>G rs1591461465
NM_005702.4(ERAL1):c.685A>T (p.Ile229Phe) rs2152642391
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) rs1583334125
NM_144672.4(OTOA):c.181T>C (p.Ser61Pro) rs369772866
NM_153700.2(STRC):c.3091C>A (p.Pro1031Thr) rs1595961729

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