ClinVar Miner

List of variants in gene PRPF31 reported by Ambry Genetics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.595G>A (p.Ala199Thr) rs142874574 0.00011
NM_015629.4(PRPF31):c.271C>T (p.Arg91Cys) rs376072327 0.00009
NM_015629.4(PRPF31):c.574G>A (p.Asp192Asn) rs751651077 0.00007
NM_015629.4(PRPF31):c.274G>A (p.Val92Ile) rs776730311 0.00003
NM_015629.4(PRPF31):c.528G>A (p.Gly176=) rs368977441 0.00003
NM_015629.4(PRPF31):c.655C>A (p.Leu219Met) rs763882898 0.00003
NM_015629.4(PRPF31):c.113A>C (p.Glu38Ala) rs746256474 0.00002
NM_015629.4(PRPF31):c.247C>G (p.Pro83Ala) rs747554145 0.00002
NM_015629.4(PRPF31):c.760G>A (p.Ala254Thr) rs753397075 0.00002
NM_015629.4(PRPF31):c.1115G>A (p.Arg372Gln) rs1472231888 0.00001
NM_015629.4(PRPF31):c.1337C>T (p.Ser446Leu) rs759253733 0.00001
NM_015629.4(PRPF31):c.664A>G (p.Ile222Val) rs761762752 0.00001
NM_015629.4(PRPF31):c.1120C>A (p.Gln374Lys) rs869312187
NM_015629.4(PRPF31):c.1186C>G (p.Leu396Val) rs1360236310
NM_015629.4(PRPF31):c.1216C>G (p.Arg406Gly) rs200636980
NM_015629.4(PRPF31):c.1309G>A (p.Gly437Arg)
NM_015629.4(PRPF31):c.1334C>T (p.Ser445Phe)
NM_015629.4(PRPF31):c.271C>G (p.Arg91Gly)
NM_015629.4(PRPF31):c.577A>G (p.Met193Val) rs2073853020
NM_015629.4(PRPF31):c.644T>C (p.Ile215Thr) rs2516144952
NM_015629.4(PRPF31):c.652A>G (p.Asn218Asp) rs2516145144
NM_015629.4(PRPF31):c.704C>G (p.Ala235Gly) rs2516155318
NM_015629.4(PRPF31):c.71G>C (p.Gly24Ala)
NM_015629.4(PRPF31):c.724T>A (p.Ser242Thr)
NM_015629.4(PRPF31):c.728A>G (p.Lys243Arg) rs1486461444
NM_015629.4(PRPF31):c.883G>T (p.Val295Leu) rs372805101
NM_015629.4(PRPF31):c.920G>A (p.Ser307Asn) rs1476069065
NM_015629.4(PRPF31):c.923T>G (p.Phe308Cys) rs587728623

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