ClinVar Miner

List of variants in gene PROM1 studied for Retinitis pigmentosa 41

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) rs1231060253 0.00002
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1500del (p.Ile500fs) rs1482618215
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006017.3(PROM1):c.1841del (p.Gly614fs) rs886037612
NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter) rs2149113303
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter) rs2149080351
NM_006017.3(PROM1):c.276+2T>C rs2149407830
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) rs780697796
NM_006017.3(PROM1):c.622del (p.Thr208fs) rs766246531
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816

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