ClinVar Miner

List of variants studied for uveal disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)

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