ClinVar Miner

List of variants in gene PRPF8 reported as uncertain significance for Retinitis pigmentosa

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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.1720-7A>G rs200224854 0.00039
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=) rs75163090 0.00035
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) rs147958141 0.00027
NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=) rs142499204 0.00027
NM_006445.4(PRPF8):c.4022+15A>G rs370376159 0.00025
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn) rs200389505 0.00024
NM_006445.4(PRPF8):c.-68C>T rs761491187 0.00017
NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=) rs372925838 0.00016
NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=) rs200741294 0.00016
NM_006445.4(PRPF8):c.5794-11T>C rs187602609 0.00015
NM_006445.4(PRPF8):c.5022C>T (p.His1674=) rs185936129 0.00010
NM_006445.4(PRPF8):c.1409+13A>G rs763003164 0.00009
NM_006445.4(PRPF8):c.283A>G (p.Met95Val) rs373157040 0.00009
NM_006445.4(PRPF8):c.*11G>T rs767915818 0.00006
NM_006445.4(PRPF8):c.6511-3T>C rs199665387 0.00006
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=) rs140315637 0.00005
NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=) rs370510856 0.00004
NM_006445.4(PRPF8):c.4792G>A (p.Asp1598Asn) rs759664867 0.00004
NM_006445.4(PRPF8):c.4947-5C>T rs190909610 0.00004
NM_006445.4(PRPF8):c.*167A>G rs753906300 0.00003
NM_006445.4(PRPF8):c.2790C>T (p.Ala930=) rs779910932 0.00003
NM_006445.4(PRPF8):c.*36C>G rs776962939 0.00002
NM_006445.4(PRPF8):c.-24G>A rs886052619 0.00002
NM_006445.4(PRPF8):c.1311C>T (p.Ala437=) rs747870802 0.00002
NM_006445.4(PRPF8):c.3009C>T (p.His1003=) rs149785500 0.00002
NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=) rs374672916 0.00002
NM_006445.4(PRPF8):c.*72C>A rs758889910 0.00001
NM_006445.4(PRPF8):c.-30T>C rs886052620 0.00001
NM_006445.4(PRPF8):c.-62G>T rs886052622 0.00001
NM_006445.4(PRPF8):c.-74C>T rs886052623 0.00001
NM_006445.4(PRPF8):c.1263C>T (p.Ala421=) rs886052615 0.00001
NM_006445.4(PRPF8):c.1401A>G (p.Gln467=) rs751438136 0.00001
NM_006445.4(PRPF8):c.1719+4A>G rs774567975 0.00001
NM_006445.4(PRPF8):c.3305C>A (p.Thr1102Lys) rs776540872 0.00001
NM_006445.4(PRPF8):c.360C>T (p.Tyr120=) rs764798990 0.00001
NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=) rs753683243 0.00001
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=) rs761118301 0.00001
NM_006445.4(PRPF8):c.6584C>G (p.Thr2195Ser) rs377037603 0.00001
NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=) rs755962697 0.00001
NM_006445.4(PRPF8):c.*36C>T rs776962939
NM_006445.4(PRPF8):c.*72C>G rs758889910
NM_006445.4(PRPF8):c.-15T>A rs886052618
NM_006445.4(PRPF8):c.-34C>T rs886052621
NM_006445.4(PRPF8):c.-43G>A rs575056329
NM_006445.4(PRPF8):c.-43G>C rs575056329
NM_006445.4(PRPF8):c.-4G>T rs886052617
NM_006445.4(PRPF8):c.-76A>G rs765014520
NM_006445.4(PRPF8):c.101-8C>T rs369806898
NM_006445.4(PRPF8):c.1653G>A (p.Leu551=) rs1912753368
NM_006445.4(PRPF8):c.2680-9G>A rs886052614
NM_006445.4(PRPF8):c.3061-9T>C rs1912518161
NM_006445.4(PRPF8):c.3081A>C (p.Ser1027=) rs201573889
NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=) rs201573889
NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu) rs886052613
NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=) rs746764862
NM_006445.4(PRPF8):c.3657+9T>C rs886052612
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=) rs549397527
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=) rs886052616
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His) rs1911084608
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del) rs1597224402
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro) rs929492529
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile) rs886052611
NM_006445.4(PRPF8):c.6854-14C>A rs573493017
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp) rs2151108985
NM_006445.4(PRPF8):c.867-14A>C rs1912894972
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296

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