ClinVar Miner

List of variants in gene PRPF31 reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.-9+3G>A rs762066202 0.00061
NM_015629.4(PRPF31):c.239-12G>A rs377086372 0.00025
NM_015629.4(PRPF31):c.697+10C>T rs369722854 0.00019
NM_015629.4(PRPF31):c.1073+5G>A rs759589041 0.00018
NM_015629.4(PRPF31):c.429C>T (p.Gly143=) rs142604510 0.00016
NM_015629.4(PRPF31):c.*197G>C rs886054620 0.00013
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) rs201806410 0.00012
NM_015629.4(PRPF31):c.510C>T (p.Thr170=) rs145699524 0.00011
NM_015629.4(PRPF31):c.855+14G>A rs370512426 0.00009
NM_015629.4(PRPF31):c.1239C>T (p.Asn413=) rs371720691 0.00008
NM_015629.4(PRPF31):c.594C>T (p.Asn198=) rs138269127 0.00008
NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile) rs144322132 0.00008
NM_015629.4(PRPF31):c.177+4A>T rs368136864 0.00007
NM_015629.4(PRPF31):c.*190T>C rs770812141 0.00006
NM_015629.4(PRPF31):c.1297G>A (p.Val433Ile) rs201906830 0.00006
NM_015629.4(PRPF31):c.420+11A>G rs371910233 0.00006
NM_015629.4(PRPF31):c.177+7G>A rs886054618 0.00003
NM_015629.4(PRPF31):c.528G>A (p.Gly176=) rs368977441 0.00003
NM_015629.4(PRPF31):c.557G>A (p.Arg186Gln) rs776437225 0.00003
NM_015629.4(PRPF31):c.*9G>A rs369008153 0.00002
NM_015629.4(PRPF31):c.1026G>A (p.Pro342=) rs760509641 0.00002
NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg) rs781412138 0.00002
NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met) rs753277924 0.00002
NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile) rs373578680 0.00002
NM_015629.4(PRPF31):c.855+12G>A rs763372742 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_015629.4(PRPF31):c.-6C>A rs770061891 0.00001
NM_015629.4(PRPF31):c.1034C>T (p.Ala345Val) rs766301461 0.00001
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) rs1411083098 0.00001
NM_015629.4(PRPF31):c.272G>A (p.Arg91His) rs759141690 0.00001
NM_015629.4(PRPF31):c.373C>G (p.Leu125Val) rs376246791 0.00001
NM_015629.4(PRPF31):c.421-9C>T rs201443830 0.00001
NM_015629.4(PRPF31):c.504C>T (p.Ser168=) rs1281473715 0.00001
NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg) rs763668481 0.00001
NM_015629.4(PRPF31):c.921T>C (p.Ser307=) rs368242197 0.00001
NM_015629.4(PRPF31):c.976C>T (p.Arg326Cys) rs1180860515 0.00001
NM_015629.4(PRPF31):c.*152G>T rs62144169
NM_015629.4(PRPF31):c.*63G>T rs2074046762
NM_015629.4(PRPF31):c.-32A>C rs886054617
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg) rs1555794210
NM_015629.4(PRPF31):c.1035G>A (p.Ala345=)
NM_015629.4(PRPF31):c.1073+17G>C rs587687884
NM_015629.4(PRPF31):c.1074-15C>G rs1161337284
NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly) rs2073971306
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1147-5C>G rs587757028
NM_015629.4(PRPF31):c.1147-9C>G rs655240
NM_015629.4(PRPF31):c.1159G>T (p.Ala387Ser)
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) rs878853332
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp) rs367896277
NM_015629.4(PRPF31):c.1332C>T (p.Arg444=)
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_015629.4(PRPF31):c.1451C>G (p.Ala484Gly) rs981971618
NM_015629.4(PRPF31):c.1499G>C (p.Ter500Ser)
NM_015629.4(PRPF31):c.207G>A (p.Glu69=) rs886054619
NM_015629.4(PRPF31):c.33C>T (p.Leu11=) rs760236177
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) rs878853330
NM_015629.4(PRPF31):c.347A>G (p.Asp116Gly)
NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile) rs2073843843
NM_015629.4(PRPF31):c.550_552del (p.Leu184del) rs2073851643
NM_015629.4(PRPF31):c.582G>A (p.Ala194=) rs757374570
NM_015629.4(PRPF31):c.613_615del (p.Tyr205del)
NM_015629.4(PRPF31):c.654C>A (p.Asn218Lys) rs2073855357
NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser) rs1480395880
NM_015629.4(PRPF31):c.736G>T (p.Ala246Ser) rs1186135759
NM_015629.4(PRPF31):c.745A>T (p.Ile249Phe) rs1161724617
NM_015629.4(PRPF31):c.808C>G (p.His270Asp) rs2073875379
NM_015629.4(PRPF31):c.821T>G (p.Ile274Ser) rs2073875700
NM_015629.4(PRPF31):c.855+5G>A rs2146426154
NM_015629.4(PRPF31):c.856G>T (p.Asp286Tyr)
NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu)
NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn) rs878853333
NM_015629.4(PRPF31):c.945+4A>G rs2073928552
NM_015629.4(PRPF31):c.946-344C>T
NM_015629.4(PRPF31):c.946-3C>G rs2073961780
NM_015629.4(PRPF31):c.955G>C (p.Glu319Gln)

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