ClinVar Miner

List of variants in gene OCRL reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.2469+1G>A
NM_000276.4(OCRL):c.2470-1G>A rs1602820970
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564

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