ClinVar Miner

List of variants reported as uncertain significance for complement factor H deficiency by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser) rs755928805 0.00002
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr) rs1652885970
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437

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