ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported as benign for autosomal dominant nonsyndromic hearing loss 12

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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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.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.4422C>T (p.Asn1474=) rs33981325 0.02261
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.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178 0.00017
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) rs530918606 0.00002
NM_005422.4(TECTA):c.5586+40C>G rs2186747

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