ClinVar Miner

List of variants reported as likely pathogenic for Sensorineural hearing loss disorder

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr) rs772606235 0.00001
NM_012208.4(HARS2):c.413G>A (p.Arg138His) rs1432653451 0.00001
NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) rs1348505504 0.00001
NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly) rs1554854341
NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) rs104894403
NM_004604.5(STX4):c.232+6T>C
NM_012208.4(HARS2):c.1439G>A (p.Arg480His) rs200089613
NM_012208.4(HARS2):c.72C>A (p.Cys24Ter) rs1581536078
NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer) rs1581550832
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) rs746982385
NM_024678.6(NARS2):c.1339A>G (p.Met447Val) rs953849956
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) rs745434198
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)
NM_207034.3(EDN3):c.293C>T (p.Thr98Met) rs745795470

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