ClinVar Miner

List of variants in gene ANKRD1 studied for Cardiomyopathy

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu) rs201398260 0.00043
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=) rs145211719 0.00009
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_014391.3(ANKRD1):c.154C>G (p.Pro52Ala) rs397517248 0.00003
NM_014391.3(ANKRD1):c.388G>T (p.Glu130Ter) rs1048316962 0.00003
NM_014391.3(ANKRD1):c.523G>A (p.Ala175Thr) rs914206942 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014391.3(ANKRD1):c.651+6C>T rs762041559 0.00001
NM_014391.3(ANKRD1):c.805C>T (p.Arg269Ter) rs397517254 0.00001
NM_014391.3(ANKRD1):c.346-14_346-9del rs773314113
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-18del rs398014415
NM_014391.3(ANKRD1):c.346-21ATTT[2] rs397517250
NM_014391.3(ANKRD1):c.646G>C (p.Asp216His) rs1416570961
NM_014391.3(ANKRD1):c.796A>G (p.Lys266Glu) rs759544911

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