ClinVar Miner

List of variants in gene PIGO reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 193
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.*41T>G rs556766 0.98454
NM_032634.4(PIGO):c.2648-113T>G rs505297 0.75699
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NC_000009.12:g.35096637T>A rs58659337 0.18406
NM_032634.4(PIGO):c.3070-51C>T rs10972310 0.07562
NM_032634.4(PIGO):c.779+92G>C rs58684907 0.05997
NM_032634.4(PIGO):c.779+49C>T rs2240115 0.04230
NM_032634.4(PIGO):c.1120-111A>G rs76364234 0.03720
NM_032634.4(PIGO):c.1119+122G>A rs76032450 0.03279
NM_032634.4(PIGO):c.*267C>G rs79276933 0.03143
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) rs2298314 0.02715
NM_032634.4(PIGO):c.2648-51A>G rs12006467 0.02447
NM_032634.4(PIGO):c.2647+83C>T rs2240113 0.02439
NM_032634.4(PIGO):c.780-125C>T rs2240114 0.02438
NM_032634.4(PIGO):c.511+91G>A rs80269270 0.02380
NM_032634.4(PIGO):c.939+97C>T rs75289720 0.01965
NM_032634.4(PIGO):c.1404A>C (p.Ala468=) rs35287398 0.01214
NM_032634.4(PIGO):c.423C>T (p.Gly141=) rs116248521 0.01090
NM_032634.4(PIGO):c.-1-77G>T rs75373249 0.01087
NM_032634.4(PIGO):c.3069+248dup rs537810369 0.00657
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) rs75579358 0.00578
NM_032634.4(PIGO):c.511+269C>A rs114952014 0.00571
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_032634.4(PIGO):c.-2+193G>A rs141599015 0.00556
NM_032634.4(PIGO):c.512-186G>A rs190300742 0.00556
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_032634.4(PIGO):c.2647+226_2647+227insAGAG rs553967471 0.00419
NM_032634.4(PIGO):c.-1-172C>A rs139306646 0.00335
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_032634.4(PIGO):c.2124G>A (p.Leu708=) rs201657672 0.00095
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser) rs138028827 0.00084
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_032634.4(PIGO):c.655+7A>C rs118002220 0.00038
NM_032634.4(PIGO):c.969T>G (p.Leu323=) rs142658052 0.00032
NM_032634.4(PIGO):c.2197C>T (p.Arg733Trp) rs748093757 0.00029
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_032634.4(PIGO):c.794G>A (p.Arg265His) rs200924324 0.00024
NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys) rs376829041 0.00020
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe) rs746870615 0.00016
NM_032634.4(PIGO):c.656-8C>T rs187058369 0.00016
NM_032634.4(PIGO):c.939+12G>C rs370844887 0.00014
NM_032634.4(PIGO):c.1891T>G (p.Cys631Gly) rs371800398 0.00013
NM_032634.4(PIGO):c.2188C>G (p.Pro730Ala) rs747418653 0.00013
NM_032634.4(PIGO):c.253C>A (p.Pro85Thr) rs745754359 0.00013
NM_032634.4(PIGO):c.3070-12C>G rs199864376 0.00013
NM_032634.4(PIGO):c.2025G>A (p.Ala675=) rs368209276 0.00011
NM_032634.4(PIGO):c.394A>G (p.Met132Val) rs772678647 0.00010
NM_032634.4(PIGO):c.2287G>T (p.Val763Leu) rs146576650 0.00009
NM_032634.4(PIGO):c.2169G>A (p.Ser723=) rs780502790 0.00008
NM_032634.4(PIGO):c.1320C>T (p.Ile440=) rs780469801 0.00007
NM_032634.4(PIGO):c.257A>G (p.Gln86Arg) rs112670103 0.00007
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_032634.4(PIGO):c.1392C>T (p.Ile464=) rs149790500 0.00006
NM_032634.4(PIGO):c.158G>A (p.Gly53Glu) rs750495026 0.00006
NM_032634.4(PIGO):c.1662G>A (p.Leu554=) rs369433160 0.00006
NM_032634.4(PIGO):c.1811G>A (p.Arg604His) rs144507866 0.00006
NM_032634.4(PIGO):c.1864C>A (p.Leu622Met) rs149262338 0.00006
NM_032634.4(PIGO):c.2506A>G (p.Met836Val) rs752108320 0.00006
NM_032634.4(PIGO):c.2908C>T (p.Arg970Trp) rs748546962 0.00006
NM_032634.4(PIGO):c.3141-15C>T rs368599591 0.00006
NM_032634.4(PIGO):c.581T>G (p.Phe194Cys) rs61755365 0.00006
NM_032634.4(PIGO):c.876G>A (p.Leu292=) rs146908736 0.00006
NM_032634.4(PIGO):c.1554A>G (p.Ala518=) rs373701949 0.00005
NM_032634.4(PIGO):c.2562C>T (p.Arg854=) rs780108725 0.00005
NM_032634.4(PIGO):c.268G>A (p.Val90Met) rs142276590 0.00005
NM_032634.4(PIGO):c.3070-25C>T rs554253658 0.00005
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_032634.4(PIGO):c.1806G>T (p.Met602Ile) rs765834237 0.00004
NM_032634.4(PIGO):c.1810C>T (p.Arg604Cys) rs368997214 0.00004
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) rs373305585 0.00004
NM_032634.4(PIGO):c.2910G>A (p.Arg970=) rs1171844461 0.00004
NM_032634.4(PIGO):c.2989C>T (p.Arg997Trp) rs773926580 0.00004
NM_032634.4(PIGO):c.339T>G (p.Ile113Met) rs370330559 0.00004
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln) rs756043994 0.00004
NM_032634.4(PIGO):c.468C>T (p.His156=) rs374876329 0.00004
NM_032634.4(PIGO):c.575A>G (p.Lys192Arg) rs138004232 0.00004
NM_032634.4(PIGO):c.789G>A (p.Val263=) rs750328169 0.00004
NM_032634.4(PIGO):c.900G>A (p.Leu300=) rs575290480 0.00004
NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu) rs749274989 0.00003
NM_032634.4(PIGO):c.1187T>A (p.Leu396Gln) rs146501297 0.00003
NM_032634.4(PIGO):c.1776C>G (p.Gly592=) rs752370056 0.00003
NM_032634.4(PIGO):c.1935A>G (p.Thr645=) rs138435332 0.00003
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_032634.4(PIGO):c.2196C>T (p.Leu732=) rs779088175 0.00003
NM_032634.4(PIGO):c.2679G>A (p.Ser893=) rs376154801 0.00003
NM_032634.4(PIGO):c.2763C>T (p.Phe921=) rs150780733 0.00003
NM_032634.4(PIGO):c.2854+7C>A rs768338180 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_032634.4(PIGO):c.356G>A (p.Arg119Gln) rs753918558 0.00003
NM_032634.4(PIGO):c.54C>T (p.Tyr18=) rs773054712 0.00003
NM_032634.4(PIGO):c.939+18C>T rs1173858609 0.00003
NM_032634.4(PIGO):c.942G>A (p.Glu314=) rs764488316 0.00003
NM_032634.4(PIGO):c.1069C>T (p.His357Tyr) rs141121202 0.00002
NM_032634.4(PIGO):c.1127G>A (p.Arg376Gln) rs768552303 0.00002
NM_032634.4(PIGO):c.1459G>A (p.Val487Met) rs762885128 0.00002
NM_032634.4(PIGO):c.1498C>G (p.Leu500Val) rs773611697 0.00002
NM_032634.4(PIGO):c.1723T>G (p.Phe575Val) rs769087057 0.00002
NM_032634.4(PIGO):c.236G>A (p.Arg79Gln) rs759013444 0.00002
NM_032634.4(PIGO):c.2383T>C (p.Tyr795His) rs760038249 0.00002
NM_032634.4(PIGO):c.2854+10C>T rs535228820 0.00002
NM_032634.4(PIGO):c.2889G>C (p.Leu963=) rs959471469 0.00002
NM_032634.4(PIGO):c.300C>T (p.Phe100=) rs760405794 0.00002
NM_032634.4(PIGO):c.-1-27A>G rs1235915287 0.00001
NM_032634.4(PIGO):c.1049G>C (p.Gly350Ala) rs368691880 0.00001
NM_032634.4(PIGO):c.1119+11G>A rs781071758 0.00001
NM_032634.4(PIGO):c.1122G>A (p.Val374=) rs549662606 0.00001
NM_032634.4(PIGO):c.1349G>A (p.Arg450His) rs756196244 0.00001
NM_032634.4(PIGO):c.1355C>T (p.Ala452Val) rs767418527 0.00001
NM_032634.4(PIGO):c.1369C>G (p.Leu457Val) rs769460289 0.00001
NM_032634.4(PIGO):c.1549G>A (p.Ala517Thr) rs781222643 0.00001
NM_032634.4(PIGO):c.1720C>T (p.Pro574Ser) rs765632190 0.00001
NM_032634.4(PIGO):c.1733G>A (p.Gly578Asp) rs1166648520 0.00001
NM_032634.4(PIGO):c.205C>T (p.Arg69Trp) rs1554673800 0.00001
NM_032634.4(PIGO):c.2168C>T (p.Ser723Leu) rs1554672556 0.00001
NM_032634.4(PIGO):c.2285C>T (p.Pro762Leu) rs767539954 0.00001
NM_032634.4(PIGO):c.2298G>A (p.Leu766=) rs762673020 0.00001
NM_032634.4(PIGO):c.2316C>T (p.Gly772=) rs761210725 0.00001
NM_032634.4(PIGO):c.2405G>A (p.Arg802Gln) rs771347652 0.00001
NM_032634.4(PIGO):c.2423T>G (p.Phe808Cys) rs1279229170 0.00001
NM_032634.4(PIGO):c.2495A>G (p.Tyr832Cys) rs891803907 0.00001
NM_032634.4(PIGO):c.2612A>C (p.His871Pro) rs909488930 0.00001
NM_032634.4(PIGO):c.2648-1G>A rs755750516 0.00001
NM_032634.4(PIGO):c.2792G>A (p.Cys931Tyr) rs891303491 0.00001
NM_032634.4(PIGO):c.2855-3C>T rs746026821 0.00001
NM_032634.4(PIGO):c.2995C>T (p.Arg999Trp) rs61746764 0.00001
NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala) rs139423183 0.00001
NM_032634.4(PIGO):c.3244C>T (p.Gln1082Ter) rs776854356 0.00001
NM_032634.4(PIGO):c.459C>T (p.Phe153=) rs201331400 0.00001
NM_032634.4(PIGO):c.469G>A (p.Ala157Thr) rs542399310 0.00001
NM_032634.4(PIGO):c.477G>A (p.Val159=) rs761159621 0.00001
NM_032634.4(PIGO):c.484A>G (p.Asn162Asp) rs776095449 0.00001
NM_032634.4(PIGO):c.511G>T (p.Gly171Ter) rs1247927038 0.00001
NM_032634.4(PIGO):c.512-7C>T rs760113080 0.00001
NM_032634.4(PIGO):c.693C>G (p.Phe231Leu) rs1587173214 0.00001
NM_032634.4(PIGO):c.782G>C (p.Gly261Ala) rs762970543 0.00001
NM_032634.4(PIGO):c.873G>T (p.Glu291Asp) rs765215020 0.00001
NM_032634.4(PIGO):c.902A>G (p.Tyr301Cys) rs771571749 0.00001
NM_032634.4(PIGO):c.939+10G>A rs1587170803 0.00001
NM_032634.4(PIGO):c.*8TG[1] rs540040672
NM_032634.4(PIGO):c.-2+16_-2+19dup rs1554674000
NM_032634.4(PIGO):c.-2+46G>C rs79746941
NM_032634.4(PIGO):c.-26G>T rs911704247
NM_032634.4(PIGO):c.102G>A (p.Glu34=) rs1057523446
NM_032634.4(PIGO):c.1119+2T>C rs1064793230
NM_032634.4(PIGO):c.1271_1272del (p.Val424fs) rs1563998317
NM_032634.4(PIGO):c.1352T>G (p.Met451Arg) rs1057518632
NM_032634.4(PIGO):c.173C>T (p.Pro58Leu) rs1340825608
NM_032634.4(PIGO):c.1758C>T (p.Val586=) rs144103228
NM_032634.4(PIGO):c.179C>A (p.Ala60Asp)
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.1919G>A (p.Arg640His) rs918368312
NM_032634.4(PIGO):c.1930G>A (p.Glu644Lys)
NM_032634.4(PIGO):c.2022G>T (p.Val674=) rs1057522037
NM_032634.4(PIGO):c.2153A>G (p.Tyr718Cys) rs1554672565
NM_032634.4(PIGO):c.2165C>T (p.Ala722Val) rs895003968
NM_032634.4(PIGO):c.2182G>C (p.Ala728Pro) rs1221803789
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2325G>T (p.Arg775Ser) rs367815008
NM_032634.4(PIGO):c.2361dup (p.Thr788fs) rs770591449
NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter) rs1199247059
NM_032634.4(PIGO):c.2431C>G (p.Arg811Gly) rs140470862
NM_032634.4(PIGO):c.247G>A (p.Ala83Thr) rs1171298718
NM_032634.4(PIGO):c.2520C>T (p.Leu840=) rs537796918
NM_032634.4(PIGO):c.2560C>T (p.Arg854Cys)
NM_032634.4(PIGO):c.2627G>A (p.Gly876Glu) rs1057524330
NM_032634.4(PIGO):c.2722C>T (p.His908Tyr) rs754489357
NM_032634.4(PIGO):c.279G>A (p.Glu93=) rs1192285768
NM_032634.4(PIGO):c.2854+8del rs756312077
NM_032634.4(PIGO):c.2961G>A (p.Glu987=) rs2131070794
NM_032634.4(PIGO):c.2979G>A (p.Leu993=) rs1554672011
NM_032634.4(PIGO):c.2990G>A (p.Arg997Gln) rs770280569
NM_032634.4(PIGO):c.3069+2T>C rs1064795758
NM_032634.4(PIGO):c.3141-9T>A rs374227554
NM_032634.4(PIGO):c.3213_3214del (p.Arg1071fs) rs1554671804
NM_032634.4(PIGO):c.377A>G (p.Asp126Gly)
NM_032634.4(PIGO):c.380C>G (p.Pro127Arg)
NM_032634.4(PIGO):c.387C>A (p.Thr129=) rs765968784
NM_032634.4(PIGO):c.412C>T (p.Leu138Phe) rs1057518551
NM_032634.4(PIGO):c.443A>T (p.Asp148Val)
NM_032634.4(PIGO):c.485A>G (p.Asn162Ser) rs1480805750
NM_032634.4(PIGO):c.511+14A>G rs1554673649
NM_032634.4(PIGO):c.512-17C>T rs2240116
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.714C>G (p.Gly238=) rs148186264
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_032634.4(PIGO):c.839T>C (p.Met280Thr)
NM_032634.4(PIGO):c.879G>A (p.Glu293=) rs753637423

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.