ClinVar Miner

List of variants in gene OCRL reported as likely 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_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263

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