ClinVar Miner

List of variants in gene PROM1 reported as pathogenic for Stargardt disease

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp) rs2149234796
NM_006017.3(PROM1):c.1579-3T>G rs1355865032
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter) rs1324631413
NM_006017.3(PROM1):c.784+1G>A rs745704627

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