ClinVar Miner

List of variants in gene SMCHD1 reported as benign by Athena Diagnostics Inc

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Gene type:
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Total variants: 12
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NM_015295.2(SMCHD1):c.*7A>G rs140650738
NM_015295.2(SMCHD1):c.1689G>A (p.Leu563=) rs78073508
NM_015295.2(SMCHD1):c.174G>C (p.Ala58=) rs2430853
NM_015295.2(SMCHD1):c.2151G>A (p.Ala717=) rs372945746
NM_015295.2(SMCHD1):c.2637A>T (p.Lys879Asn) rs633422
NM_015295.2(SMCHD1):c.2838T>C (p.Ala946=) rs375251871
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477
NM_015295.2(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949
NM_015295.2(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.873+7T>C rs114242799

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