ClinVar Miner

List of variants in gene PRX reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_181882.3(PRX):c.27+274G>A rs16974263 0.28525
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_181882.3(PRX):c.27+311G>A rs73559626 0.06208
NM_181882.3(PRX):c.-100+38C>A rs11879375 0.06207
NM_181882.3(PRX):c.-99-42G>A rs3814288 0.05919
NM_181882.3(PRX):c.-242-208G>A rs77976359 0.04339
NM_181882.3(PRX):c.2017A>G (p.Met673Val) rs61735531 0.03414
NM_181882.3(PRX):c.382-187T>C rs12975338 0.03394
NM_181882.3(PRX):c.185-151G>C rs922217 0.03384
NM_181882.3(PRX):c.2727C>T (p.Pro909=) rs61735546 0.03308
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_181882.3(PRX):c.471G>A (p.Glu157=) rs4803335 0.01488
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_181882.3(PRX):c.-243+159C>A rs268665 0.01116
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly) rs61733451 0.01078
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_181882.3(PRX):c.185-167C>T rs117182727 0.00882
NM_181882.3(PRX):c.2469G>A (p.Ala823=) rs61733450 0.00644
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_181882.3(PRX):c.382-96C>T rs77238923 0.00553
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro) rs146061247 0.00332
NM_181882.3(PRX):c.-236G>A rs552436076 0.00317
NM_181882.3(PRX):c.554G>A (p.Arg185His) rs76756143 0.00292
NM_181882.3(PRX):c.3702C>T (p.Gly1234=) rs139950446 0.00291
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_181882.3(PRX):c.892C>T (p.Pro298Ser) rs185112635 0.00262
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
NM_181882.3(PRX):c.445G>A (p.Ala149Thr) rs142436391 0.00193
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_181882.3(PRX):c.719G>A (p.Arg240Gln) rs77917609 0.00140
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly) rs148600818 0.00099
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_181882.3(PRX):c.2494G>C (p.Val832Leu) rs116139153 0.00077
NM_181882.3(PRX):c.3145G>A (p.Gly1049Ser) rs186086914 0.00067
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu) rs118003416 0.00059
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln) rs139586219 0.00058
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_181882.3(PRX):c.1651G>A (p.Val551Met) rs61733448 0.00047
NM_181882.3(PRX):c.2832T>C (p.Ala944=) rs145226687 0.00046
NM_181882.3(PRX):c.381+18G>A rs147585269 0.00046
NM_181882.3(PRX):c.2101G>A (p.Val701Met) rs116855701 0.00041
NM_181882.3(PRX):c.540G>A (p.Pro180=) rs371243093 0.00036
NM_181882.3(PRX):c.3708G>A (p.Ala1236=) rs202119177 0.00035
NM_181882.3(PRX):c.960G>A (p.Ser320=) rs775367319 0.00033
NM_181882.3(PRX):c.285C>T (p.Cys95=) rs531527827 0.00032
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00022
NM_181882.3(PRX):c.993G>A (p.Pro331=) rs146323928 0.00022
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr) rs565094384 0.00019
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln) rs146222815 0.00019
NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro) rs149093940 0.00019
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp) rs201337455 0.00018
NM_181882.3(PRX):c.2278G>A (p.Val760Met) rs548905150 0.00017
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu) rs201393544 0.00017
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys) rs147441856 0.00014
NM_181882.3(PRX):c.1387G>T (p.Val463Phe) rs764004836 0.00013
NM_181882.3(PRX):c.4151C>T (p.Ala1384Val) rs201618230 0.00013
NM_181882.3(PRX):c.1129G>T (p.Val377Leu) rs754081921 0.00011
NM_181882.3(PRX):c.16C>G (p.Arg6Gly) rs759056060 0.00010
NM_181882.3(PRX):c.-19G>A rs758480824 0.00009
NM_181882.3(PRX):c.2265G>A (p.Leu755=) rs370753668 0.00009
NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys) rs768524850 0.00009
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys) rs142064826 0.00008
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs780147663 0.00008
NM_181882.3(PRX):c.1040G>A (p.Arg347Gln) rs141288626 0.00007
NM_181882.3(PRX):c.922A>G (p.Thr308Ala) rs753330520 0.00007
NM_181882.3(PRX):c.1500A>G (p.Ser500=) rs777104457 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.2701G>A (p.Val901Ile) rs767898499 0.00006
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln) rs377009047 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_181882.3(PRX):c.727G>A (p.Gly243Arg) rs774726424 0.00006
NM_181882.3(PRX):c.2164A>G (p.Met722Val) rs376309142 0.00005
NM_181882.3(PRX):c.237C>T (p.Asp79=) rs376174896 0.00005
NM_181882.3(PRX):c.3422C>T (p.Ala1141Val) rs201233076 0.00005
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu) rs771234852 0.00005
NM_181882.3(PRX):c.642C>A (p.Pro214=) rs551628239 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln) rs752531623 0.00004
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys) rs751742049 0.00004
NM_181882.3(PRX):c.3845C>T (p.Ser1282Leu) rs753530396 0.00004
NM_181882.3(PRX):c.3852C>T (p.Ser1284=) rs567324732 0.00004
NM_181882.3(PRX):c.1539G>A (p.Pro513=) rs187786861 0.00003
NM_181882.3(PRX):c.1827C>T (p.Pro609=) rs751816156 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_181882.3(PRX):c.3041T>C (p.Leu1014Pro) rs766119564 0.00003
NM_181882.3(PRX):c.3939G>A (p.Leu1313=) rs140109585 0.00003
NM_181882.3(PRX):c.4152G>A (p.Ala1384=) rs756887163 0.00003
NM_181882.3(PRX):c.4157C>A (p.Pro1386His) rs372582520 0.00003
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile) rs746338096 0.00003
NM_181882.3(PRX):c.716C>T (p.Pro239Leu) rs528907584 0.00003
NM_181882.3(PRX):c.1080T>C (p.Leu360=) rs199882125 0.00002
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter) rs773009397 0.00002
NM_181882.3(PRX):c.2496A>T (p.Val832=) rs777527307 0.00002
NM_181882.3(PRX):c.4206C>T (p.Pro1402=) rs771992595 0.00002
NM_181882.3(PRX):c.-9A>C rs200766544 0.00001
NM_181882.3(PRX):c.1019C>T (p.Pro340Leu) rs780373582 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942 0.00001
NM_181882.3(PRX):c.1647G>C (p.Pro549=) rs202113722 0.00001
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs757931043 0.00001
NM_181882.3(PRX):c.2268G>A (p.Pro756=) rs570227186 0.00001
NM_181882.3(PRX):c.2307G>A (p.Pro769=) rs148655811 0.00001
NM_181882.3(PRX):c.2619C>T (p.Ala873=) rs761066015 0.00001
NM_181882.3(PRX):c.2681T>A (p.Val894Glu) rs778360076 0.00001
NM_181882.3(PRX):c.27+13G>A rs780222566 0.00001
NM_181882.3(PRX):c.3275T>G (p.Val1092Gly) rs202065092 0.00001
NM_181882.3(PRX):c.3366G>A (p.Gln1122=) rs952933935 0.00001
NM_181882.3(PRX):c.354G>A (p.Lys118=) rs1044654884 0.00001
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs751126995 0.00001
NM_181882.3(PRX):c.4109G>A (p.Arg1370His) rs756687548 0.00001
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs778270475 0.00001
NM_181882.3(PRX):c.4350G>A (p.Pro1450=) rs768051108 0.00001
NM_181882.3(PRX):c.707T>C (p.Leu236Pro) rs876661240 0.00001
NC_000019.10:g.40393737C>T rs77958337
NC_000019.10:g.40413554dup rs112426896
NM_181882.3(PRX):c.-199+7G>A rs541213273
NM_181882.3(PRX):c.-242-3T>G
NM_181882.3(PRX):c.-99-20C>G rs148577357
NM_181882.3(PRX):c.1002G>T (p.Gly334=) rs755650027
NM_181882.3(PRX):c.1012G>C (p.Ala338Pro)
NM_181882.3(PRX):c.1087C>T (p.Pro363Ser) rs886054439
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
NM_181882.3(PRX):c.1494A>G (p.Lys498=) rs879096800
NM_181882.3(PRX):c.1658A>G (p.Glu553Gly) rs879254301
NM_181882.3(PRX):c.1680A>C (p.Ser560=) rs1194012098
NM_181882.3(PRX):c.1725G>A (p.Pro575=) rs1043949955
NM_181882.3(PRX):c.1825C>T (p.Pro609Ser) rs759927281
NM_181882.3(PRX):c.1900A>G (p.Met634Val) rs201204029
NM_181882.3(PRX):c.1911_1925del (p.Glu638_Pro642del) rs759376968
NM_181882.3(PRX):c.1936G>C (p.Glu646Gln) rs750625856
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn) rs779294844
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln) rs760071236
NM_181882.3(PRX):c.2282_2284del (p.Pro761_Lys762delinsGln) rs1131691425
NM_181882.3(PRX):c.2300A>G (p.His767Arg) rs760124085
NM_181882.3(PRX):c.2641C>A (p.Arg881=) rs375201649
NM_181882.3(PRX):c.265C>T (p.Pro89Ser) rs550049072
NM_181882.3(PRX):c.27+12C>T rs376353333
NM_181882.3(PRX):c.2775_2776insT (p.Lys926Ter) rs1599652316
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_181882.3(PRX):c.2967C>G (p.Leu989=) rs1057522657
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_181882.3(PRX):c.3527CAG[1] (p.Ala1177del) rs765351391
NM_181882.3(PRX):c.3685C>T (p.Arg1229Ter)
NM_181882.3(PRX):c.3831C>G (p.Pro1277=) rs577796628
NM_181882.3(PRX):c.3856G>A (p.Gly1286Ser) rs555523161
NM_181882.3(PRX):c.3961G>A (p.Glu1321Lys) rs748063094
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4283A>C (p.Gln1428Pro) rs2145724629
NM_181882.3(PRX):c.4352C>T (p.Ala1451Val) rs2145724458
NM_181882.3(PRX):c.485A>G (p.Lys162Arg) rs879254072
NM_181882.3(PRX):c.631G>A (p.Ala211Thr) rs112973322
NM_181882.3(PRX):c.682C>G (p.Arg228Gly) rs751238438
NM_181882.3(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs2079451762

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