ClinVar Miner

List of variants in gene CFI reported as risk factor 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: 6
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HGVS dbSNP
NM_000204.4(CFI):c.1420C>T (p.Arg474Ter) rs121964913
NM_000204.4(CFI):c.1555G>A (p.Asp519Asn) rs121964918
NM_000204.4(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.4(CFI):c.1637G>A (p.Trp546Ter) rs121964915
NM_000204.4(CFI):c.355G>A (p.Gly119Arg) rs141853578
NM_000204.4(CFI):c.949C>T (p.Arg317Trp) rs121964917

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