ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_005422.4(TECTA):c.1485A>G (p.Ala495=) rs536069 0.76077
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_005422.4(TECTA):c.5272+26A>G rs662496 0.47584
NM_005422.4(TECTA):c.4098G>A (p.Thr1366=) rs12275038 0.28426
NM_005422.4(TECTA):c.4105+13C>T rs7130952 0.26144
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=) rs2155369 0.10906
NM_005422.4(TECTA):c.5586+40C>G rs2186747

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