ClinVar Miner

List of variants studied for Doyne honeycomb retinal dystrophy by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118

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