ClinVar Miner

List of variants in gene SMCHD1 reported as benign for Facioscapulohumeral muscular dystrophy 2

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Total variants: 9
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NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) rs117771893
NM_015295.2(SMCHD1):c.1956+7C>T rs145755468
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015295.2(SMCHD1):c.2878A>G (p.Ile960Val) rs9961682
NM_015295.2(SMCHD1):c.3612A>T (p.Ser1204=) rs115632137
NM_015295.2(SMCHD1):c.399T>C (p.Tyr133=) rs7239096
NM_015295.2(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949
NM_015295.2(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750
NM_015295.2(SMCHD1):c.873+7T>C rs114242799

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