ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported as likely benign for autosomal recessive nonsyndromic hearing loss 21

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024

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