ClinVar Miner

Variants in gene SMCHD1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
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.2913+6C>G rs186678728 0.00153
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319

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