ClinVar Miner

List of variants in gene PLS3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_005032.7(PLS3):c.892-500G>A rs7051609 0.22253
NM_005032.7(PLS3):c.892-215C>T rs5987764 0.18660
NM_005032.7(PLS3):c.1511+82T>C rs2301951 0.16363
NM_005032.7(PLS3):c.1377+17C>T rs871773 0.15486
NM_005032.7(PLS3):c.1263-319C>A rs4991873 0.13898
NM_005032.7(PLS3):c.1242T>C (p.Pro414=) rs2108099 0.12327
NM_005032.7(PLS3):c.1294T>C (p.Leu432=) rs871774 0.10408
NM_005032.7(PLS3):c.237+182C>T rs5987946 0.04827
NM_005032.7(PLS3):c.74-79A>G rs115460141 0.04133
NM_005032.7(PLS3):c.74-50C>A rs144675308 0.04101
NM_005032.7(PLS3):c.74-236A>G rs114536525 0.04076
NM_005032.7(PLS3):c.-8-78C>T rs115844382 0.03427
NM_005032.7(PLS3):c.-8-20C>T rs114186394 0.03418
NM_005032.7(PLS3):c.73+277G>T rs115290821 0.03390
NM_005032.7(PLS3):c.748+130G>A rs148608302 0.02673
NM_005032.7(PLS3):c.1263-271T>C rs111301889 0.02461
NM_005032.7(PLS3):c.1511+249G>A rs144112359 0.02426
NM_005032.7(PLS3):c.367+86T>A rs146211857 0.02403
NM_005032.7(PLS3):c.1761-298C>T rs113899749 0.02389
NM_005032.7(PLS3):c.367+11T>C rs112140311 0.02260
NM_005032.7(PLS3):c.749-25T>C rs145269469 0.02106
NM_005032.7(PLS3):c.582+288A>G rs73638913 0.01947
NM_005032.7(PLS3):c.74-130T>A rs113228979 0.01807
NM_005032.7(PLS3):c.583-215A>G rs112495160 0.01741
NM_005032.7(PLS3):c.368-56A>C rs112972944 0.01726
NM_005032.7(PLS3):c.1512-185G>A rs144306658 0.01704
NM_005032.7(PLS3):c.-8-139G>A rs73581642 0.01651
NM_005032.7(PLS3):c.73+621C>A rs5987754 0.01606
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_005032.7(PLS3):c.1512-301C>T rs189238729 0.01229
NM_005032.7(PLS3):c.1377+103C>T rs141320750 0.00833
NM_005032.7(PLS3):c.1263-113G>C rs111881150 0.00708
NM_005032.7(PLS3):c.1512-112A>C rs180874440 0.00675
NM_005032.7(PLS3):c.237+18C>A rs146656785 0.00674
NM_005032.7(PLS3):c.892-529C>A rs145276872 0.00638
NM_005032.7(PLS3):c.1761-109T>C rs149254006 0.00428
NM_005032.7(PLS3):c.1263-186A>G rs782397891 0.00238
NM_005032.7(PLS3):c.925A>G (p.Ile309Val) rs140968059 0.00200
NM_005032.7(PLS3):c.582+8T>G rs189475474 0.00086
NM_005032.7(PLS3):c.1380A>G (p.Leu460=) rs75219193 0.00056
NM_005032.7(PLS3):c.1275T>C (p.Asp425=) rs148514983 0.00046
NM_005032.7(PLS3):c.1050A>G (p.Arg350=) rs113204501 0.00029
NM_005032.7(PLS3):c.749-19T>C rs781909098 0.00021
NM_005032.7(PLS3):c.1760+18T>C rs186212591 0.00018
NM_005032.7(PLS3):c.1101A>G (p.Leu367=) rs1859671 0.00017
NM_005032.7(PLS3):c.1183+6dup rs1251079240 0.00016
NM_005032.7(PLS3):c.1518C>A (p.Thr506=) rs35525703 0.00016
NM_005032.7(PLS3):c.720C>T (p.Phe240=) rs781887875 0.00012
NM_005032.7(PLS3):c.1154A>G (p.Asn385Ser) rs782600450 0.00011
NM_005032.7(PLS3):c.225C>T (p.Asp75=) rs113492800 0.00010
NM_005032.7(PLS3):c.688C>T (p.Leu230=) rs371332791 0.00010
NM_005032.7(PLS3):c.1760+8A>G rs369282870 0.00008
NM_005032.7(PLS3):c.1377+4G>A rs782807818 0.00006
NM_005032.7(PLS3):c.892-18A>C rs199599805 0.00006
NM_005032.7(PLS3):c.958C>T (p.Arg320Trp) rs137917062 0.00006
NM_005032.7(PLS3):c.87C>T (p.Asn29=) rs972895977 0.00004
NM_005032.7(PLS3):c.1262+15T>G rs782736548 0.00003
NM_005032.7(PLS3):c.974T>C (p.Met325Thr) rs142569974 0.00003
NM_005032.7(PLS3):c.1193G>A (p.Arg398His) rs782290456 0.00002
NM_005032.7(PLS3):c.1636-7A>G rs375919853 0.00002
NM_005032.7(PLS3):c.1760+14C>G rs1357462334 0.00002
NM_005032.7(PLS3):c.1262C>T (p.Ala421Val) rs370999829 0.00001
NM_005032.7(PLS3):c.1657T>C (p.Leu553=) rs782809882 0.00001
NM_005032.7(PLS3):c.1732A>G (p.Thr578Ala) rs149142111 0.00001
NM_005032.7(PLS3):c.1809C>T (p.Leu603=) rs898304571 0.00001
NM_005032.7(PLS3):c.1873A>G (p.Arg625Gly) rs782219245 0.00001
NM_005032.7(PLS3):c.501-1G>A rs781935919 0.00001
NM_005032.7(PLS3):c.577A>G (p.Ile193Val) rs1342960992 0.00001
NC_000023.10:g.(?_114844563)_(114844655_?)del
NC_000023.10:g.(?_114844563)_(114883881_?)del
NC_000023.10:g.(?_114844563)_(114883881_?)dup
NC_000023.10:g.(?_114871128)_(114871310_?)dup
NC_000023.10:g.(?_114877605)_(114883881_?)dup
NM_005032.7(PLS3):c.1050_1053del (p.Arg350fs)
NM_005032.7(PLS3):c.1067del (p.Ala356fs) rs2147577444
NM_005032.7(PLS3):c.1092A>G (p.Lys364=)
NM_005032.7(PLS3):c.1098C>T (p.Asn366=)
NM_005032.7(PLS3):c.1108G>A (p.Val370Met)
NM_005032.7(PLS3):c.1118T>C (p.Leu373Pro) rs2147577636
NM_005032.7(PLS3):c.1124A>G (p.Asn375Ser)
NM_005032.7(PLS3):c.1142_1145del (p.Thr381fs)
NM_005032.7(PLS3):c.1169G>A (p.Trp390Ter)
NM_005032.7(PLS3):c.1183+17A>G
NM_005032.7(PLS3):c.1184-2A>G
NM_005032.7(PLS3):c.1209C>G (p.Phe403Leu)
NM_005032.7(PLS3):c.1237A>G (p.Asn413Asp)
NM_005032.7(PLS3):c.1245C>T (p.His415=)
NM_005032.7(PLS3):c.1252del (p.His418fs)
NM_005032.7(PLS3):c.1262+15_1262+33delinsAATAGCAGTAG
NM_005032.7(PLS3):c.1262+18T>A
NM_005032.7(PLS3):c.1262+1G>A rs868979288
NM_005032.7(PLS3):c.1263-309del rs5903456
NM_005032.7(PLS3):c.1263-321dup rs201026309
NM_005032.7(PLS3):c.1290dup (p.Gln431fs) rs2147585558
NM_005032.7(PLS3):c.1303C>T (p.Arg435Ter)
NM_005032.7(PLS3):c.1304G>A (p.Arg435Gln)
NM_005032.7(PLS3):c.1326G>A (p.Trp442Ter) rs2147585672
NM_005032.7(PLS3):c.132T>G (p.Ala44=)
NM_005032.7(PLS3):c.1353G>A (p.Pro451=)
NM_005032.7(PLS3):c.1375_1376del (p.Lys459fs) rs2147585800
NM_005032.7(PLS3):c.1383A>G (p.Glu461=)
NM_005032.7(PLS3):c.1388G>A (p.Cys463Tyr) rs2147586579
NM_005032.7(PLS3):c.1400T>C (p.Val467Ala) rs2147586617
NM_005032.7(PLS3):c.1415A>G (p.His472Arg)
NM_005032.7(PLS3):c.1425A>G (p.Lys475=)
NM_005032.7(PLS3):c.1453G>T (p.Asp485Tyr)
NM_005032.7(PLS3):c.145C>T (p.Pro49Ser)
NM_005032.7(PLS3):c.1476C>G (p.Thr492=) rs35211005
NM_005032.7(PLS3):c.1476C>T (p.Thr492=) rs35211005
NM_005032.7(PLS3):c.1511+16T>C
NM_005032.7(PLS3):c.1511+1G>A rs2147586886
NM_005032.7(PLS3):c.1511+9C>T
NM_005032.7(PLS3):c.1512-261= rs2843606
NM_005032.7(PLS3):c.1512-267del rs11339296
NM_005032.7(PLS3):c.1545T>C (p.Asp515=)
NM_005032.7(PLS3):c.1563C>T (p.Asp521=)
NM_005032.7(PLS3):c.1580G>A (p.Trp527Ter)
NM_005032.7(PLS3):c.1586_1588dup (p.Asn529_Arg530insAsn)
NM_005032.7(PLS3):c.1593G>A (p.Thr531=)
NM_005032.7(PLS3):c.1596G>A (p.Leu532=)
NM_005032.7(PLS3):c.15T>C (p.Ala5=)
NM_005032.7(PLS3):c.1613C>A (p.Ser538Ter)
NM_005032.7(PLS3):c.1620del (p.Ile541fs)
NM_005032.7(PLS3):c.1644G>A (p.Thr548=)
NM_005032.7(PLS3):c.1683C>T (p.Ala561=)
NM_005032.7(PLS3):c.1727A>G (p.Asn576Ser)
NM_005032.7(PLS3):c.1761-10C>T
NM_005032.7(PLS3):c.1761-16T>C
NM_005032.7(PLS3):c.1767A>G (p.Ala589=)
NM_005032.7(PLS3):c.1798G>A (p.Val600Met)
NM_005032.7(PLS3):c.1802A>G (p.Tyr601Cys)
NM_005032.7(PLS3):c.188A>G (p.Asp63Gly) rs987712053
NM_005032.7(PLS3):c.191G>A (p.Gly64Asp)
NM_005032.7(PLS3):c.194A>C (p.Asp65Ala)
NM_005032.7(PLS3):c.226G>A (p.Glu76Lys)
NM_005032.7(PLS3):c.234_237+10del rs781875935
NM_005032.7(PLS3):c.237+17del
NM_005032.7(PLS3):c.243dup (p.Gln82fs)
NM_005032.7(PLS3):c.247G>A (p.Glu83Lys)
NM_005032.7(PLS3):c.270C>A (p.Ala90=)
NM_005032.7(PLS3):c.280C>T (p.Arg94Cys)
NM_005032.7(PLS3):c.281G>A (p.Arg94His)
NM_005032.7(PLS3):c.323del (p.Gly108fs)
NM_005032.7(PLS3):c.330A>C (p.Ser110=)
NM_005032.7(PLS3):c.342C>T (p.Ser114=)
NM_005032.7(PLS3):c.346G>A (p.Gly116Arg)
NM_005032.7(PLS3):c.347G>A (p.Gly116Glu) rs2147533013
NM_005032.7(PLS3):c.352C>T (p.Gln118Ter)
NM_005032.7(PLS3):c.367+1G>A rs2147533057
NM_005032.7(PLS3):c.378A>G (p.Lys126=)
NM_005032.7(PLS3):c.394del (p.Trp132fs)
NM_005032.7(PLS3):c.39G>A (p.Glu13=)
NM_005032.7(PLS3):c.412G>A (p.Glu138Lys)
NM_005032.7(PLS3):c.468G>C (p.Leu156=)
NM_005032.7(PLS3):c.471C>G (p.Phe157Leu)
NM_005032.7(PLS3):c.471C>T (p.Phe157=)
NM_005032.7(PLS3):c.478G>A (p.Val160Ile)
NM_005032.7(PLS3):c.500+19T>C
NM_005032.7(PLS3):c.500+85G>A rs7052987
NM_005032.7(PLS3):c.501-16T>A
NM_005032.7(PLS3):c.501-190_501-178del rs201765481
NM_005032.7(PLS3):c.501-4T>A
NM_005032.7(PLS3):c.501-6T>C
NM_005032.7(PLS3):c.501-7G>A
NM_005032.7(PLS3):c.524C>G (p.Pro175Arg)
NM_005032.7(PLS3):c.547A>G (p.Ile183Val) rs2147549294
NM_005032.7(PLS3):c.582+15C>T
NM_005032.7(PLS3):c.583-3C>A rs2147551714
NM_005032.7(PLS3):c.606C>T (p.Asn202=)
NM_005032.7(PLS3):c.60C>T (p.Ala20=)
NM_005032.7(PLS3):c.618del (p.Ile207fs) rs2147551767
NM_005032.7(PLS3):c.630T>C (p.His210=)
NM_005032.7(PLS3):c.647C>T (p.Ala216Val) rs2074815332
NM_005032.7(PLS3):c.649G>A (p.Glu217Lys) rs2147551849
NM_005032.7(PLS3):c.651A>G (p.Glu217=)
NM_005032.7(PLS3):c.658A>C (p.Arg220=)
NM_005032.7(PLS3):c.659G>A (p.Arg220Lys)
NM_005032.7(PLS3):c.661G>A (p.Ala221Thr)
NM_005032.7(PLS3):c.680T>A (p.Val227Asp) rs2147551920
NM_005032.7(PLS3):c.683del (p.Leu228fs)
NM_005032.7(PLS3):c.685G>A (p.Gly229Arg) rs2147551926
NM_005032.7(PLS3):c.693T>A (p.Leu231=)
NM_005032.7(PLS3):c.707A>C (p.Lys236Thr)
NM_005032.7(PLS3):c.718T>C (p.Phe240Leu) rs1484621202
NM_005032.7(PLS3):c.727A>G (p.Ile243Val) rs2147552069
NM_005032.7(PLS3):c.73+178del rs368406135
NM_005032.7(PLS3):c.73+8T>A
NM_005032.7(PLS3):c.748+1G>A
NM_005032.7(PLS3):c.748+4del
NM_005032.7(PLS3):c.749-10T>C
NM_005032.7(PLS3):c.749-18T>C rs2147558232
NM_005032.7(PLS3):c.749-20_749-19insC rs1556640295
NM_005032.7(PLS3):c.749-8del rs111323826
NM_005032.7(PLS3):c.750C>G (p.Ala250=)
NM_005032.7(PLS3):c.754G>A (p.Ala252Thr)
NM_005032.7(PLS3):c.75dup (p.Leu26fs) rs2074663472
NM_005032.7(PLS3):c.765C>T (p.Leu255=)
NM_005032.7(PLS3):c.766C>T (p.Arg256Ter) rs2147558436
NM_005032.7(PLS3):c.767G>A (p.Arg256Gln) rs1194209583
NM_005032.7(PLS3):c.770A>G (p.Asp257Gly)
NM_005032.7(PLS3):c.77T>C (p.Leu26Pro)
NM_005032.7(PLS3):c.789A>G (p.Glu263=) rs2074843393
NM_005032.7(PLS3):c.794T>A (p.Met265Lys)
NM_005032.7(PLS3):c.822T>C (p.Leu274=)
NM_005032.7(PLS3):c.859C>A (p.Gln287Lys)
NM_005032.7(PLS3):c.865_866delinsG (p.Ile289fs)
NM_005032.7(PLS3):c.86A>G (p.Asn29Ser)
NM_005032.7(PLS3):c.876T>C (p.Phe292=) rs373249162
NM_005032.7(PLS3):c.877A>G (p.Ser293Gly)
NM_005032.7(PLS3):c.89G>A (p.Gly30Glu) rs2074663738
NM_005032.7(PLS3):c.912T>C (p.His304=)
NM_005032.7(PLS3):c.928G>A (p.Ala310Thr)
NM_005032.7(PLS3):c.928G>T (p.Ala310Ser)
NM_005032.7(PLS3):c.935A>C (p.Lys312Thr)
NM_005032.7(PLS3):c.950G>A (p.Gly317Asp)
NM_005032.7(PLS3):c.987+13G>A
NM_005032.7(PLS3):c.987T>C (p.Asn329=)
NM_005032.7(PLS3):c.988-20T>C
NM_005032.7(PLS3):c.994_995del (p.Thr331_Asp332insTer)

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