ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported as uncertain significance for Hearing impairment

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005422.4(TECTA):c.1132G>A (p.Val378Met) rs372860835 0.00009
NM_005422.4(TECTA):c.1123G>A (p.Val375Ile) rs752254649 0.00006
NM_005422.4(TECTA):c.314A>G (p.Asn105Ser) rs752159524 0.00006
NM_005422.4(TECTA):c.5978G>A (p.Arg1993Gln) rs199881827 0.00002
NM_005422.4(TECTA):c.1475T>C (p.Val492Ala) rs753099302 0.00001
NM_005422.4(TECTA):c.1807T>C (p.Tyr603His) rs2135080936
NM_005422.4(TECTA):c.2279A>T (p.Asp760Val) rs1456495966
NM_005422.4(TECTA):c.4214G>A (p.Gly1405Asp) rs1216336175
NM_005422.4(TECTA):c.5272+4A>G rs1591461465
NM_005422.4(TECTA):c.668C>T (p.Pro223Leu) rs773877361

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