ClinVar Miner

List of variants studied for Stargardt disease by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001

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