ClinVar Miner

List of variants in gene SMCHD1 reported by Athena Diagnostics Inc

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Total variants: 10
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HGVS dbSNP
NM_015295.2(SMCHD1):c.*7A>G rs140650738
NM_015295.2(SMCHD1):c.1689G>A (p.Leu563=) rs78073508
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949
NM_015295.2(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.473G>A (p.Arg158His) rs531460906
NM_015295.2(SMCHD1):c.5782dup (p.Ser1928Lysfs) rs1555658855
NM_015295.2(SMCHD1):c.873+7T>C rs114242799

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