ClinVar Miner

List of variants in gene CD46 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: 6
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NM_002389.4(CD46):c.404del (p.Gly135fs)
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.714_715del (p.Gln238fs)
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter)

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