ClinVar Miner

List of variants in gene CFHR5 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
CFHR5, EX2-3DUP
NM_030787.3(CFHR5):c.486dupA (p.Glu163Argfs) rs565457964
NM_030787.3(CFHR5):c.678delA (p.Glu226Aspfs) rs368209619
NM_030787.3(CFHR5):c.993C>A (p.Cys331Ter) rs751010317

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