ClinVar Miner

List of variants in gene SEC63 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del) rs752018806
NM_007214.5(SEC63):c.173G>A (p.Trp58Ter) rs119103233
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) rs869312978
NM_007214.5(SEC63):c.442_443insA (p.Ala148fs) rs886041027
NM_007214.5(SEC63):c.452+1G>A rs869312977
NM_007214.5(SEC63):c.514+1G>A rs1554236269
NM_007214.5(SEC63):c.733+1G>A rs886041028

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