ClinVar Miner

List of variants in gene SMCHD1 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) rs117771893
NM_015295.2(SMCHD1):c.174G>C (p.Ala58=) rs2430853
NM_015295.2(SMCHD1):c.1956+7C>T rs145755468
NM_015295.2(SMCHD1):c.2147-5C>T rs184984483
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015295.2(SMCHD1):c.321A>G (p.Leu107=) rs567120742
NM_015295.2(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888
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.4847-6delT rs763328487
NM_015295.2(SMCHD1):c.873+7T>C rs114242799

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