ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.2637A>T (p.Lys879Asn) rs633422 0.32971
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_015295.3(SMCHD1):c.873+7T>C rs114242799 0.00957
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_015295.3(SMCHD1):c.*7A>G rs140650738 0.00458
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949 0.00181
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037

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