ClinVar Miner

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

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala) rs778931753
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) rs753237335

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