ClinVar Miner

List of variants in gene SMCHD1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 27
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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.4808C>T (p.Thr1603Ile) rs147034750 0.00303
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.5878+8T>G rs144115061 0.00097
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
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_015295.3(SMCHD1):c.473G>A (p.Arg158His) rs531460906 0.00004
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=) rs760899591 0.00001
NM_015295.3(SMCHD1):c.1916_1918del (p.Gly639del) rs1598342592
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro) rs1598284093
NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)
NM_015295.3(SMCHD1):c.4847-1G>T
NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile) rs2075998748
NM_015295.3(SMCHD1):c.5782dup (p.Ser1928fs) rs1555658855

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