ClinVar Miner

List of variants in gene PROM1 reported as pathogenic for Autosomal recessive retinitis pigmentosa

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.2130+2del rs768303070 0.00001
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1557C>G (p.Tyr519Ter) rs137853907

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