ClinVar Miner

List of variants reported as likely benign for Nemaline myopathy 6

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Total variants: 6
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HGVS dbSNP
NM_001101362.2(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223
NM_001101362.2(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117
NM_001101362.2(KBTBD13):c.375C>G (p.Ala125=) rs540939027
NM_001101362.2(KBTBD13):c.477C>G (p.Ala159=) rs1052175397
NM_001101362.2(KBTBD13):c.576G>C (p.Ala192=) rs1490959556
NM_001101362.2(KBTBD13):c.810G>C (p.Thr270=) rs912566376

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