ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_005422.2(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.2(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.2(TECTA):c.2887G>A (p.Ala963Thr) rs753896285
NM_005422.2(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531
NM_005422.2(TECTA):c.4856G>C (p.Cys1619Ser) rs121909060
NM_005422.2(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_005422.2(TECTA):c.5331G>A (p.Leu1777=) rs1591462832
NM_005422.2(TECTA):c.5509T>C (p.Cys1837Arg) rs121909061
NM_005422.2(TECTA):c.5509T>G (p.Cys1837Gly) rs121909061
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005422.2(TECTA):c.5609A>G (p.Tyr1870Cys) rs121909058
NM_005422.2(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.2(TECTA):c.5866C>T (p.Arg1956Ter) rs1565536400
NM_005422.2(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005422.2(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.2(TECTA):c.6162+5G>A rs1565541888
NM_005422.2(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005422.2(TECTA):c.[5458C>T;5471G>A]
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158

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