ClinVar Miner

List of variants in gene KBTBD13 reported as benign for Nemaline myopathy 6

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Total variants: 14
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HGVS dbSNP
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) rs116623596
NM_001101362.2(KBTBD13):c.115G>C (p.Gly39Arg) rs201420126
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369
NM_001101362.2(KBTBD13):c.171T>C (p.Gly57=) rs369379657
NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658
NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) rs115182478
NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) rs568675071
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272
NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) rs368781046
NM_001101362.2(KBTBD13):c.958G>T (p.Val320Leu) rs367648853
NM_001101362.2(KBTBD13):c.981C>G (p.Thr327=) rs184130258

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