ClinVar Miner

List of variants in gene PIGO reported as likely benign for hyperphosphatasia-intellectual disability syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 297
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.*267C>G rs79276933 0.03143
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_032634.4(PIGO):c.-94C>A rs533921038 0.00295
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
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.2635G>A (p.Val879Ile) rs139155910 0.00024
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.3070-12C>G rs199864376 0.00013
NM_032634.4(PIGO):c.2025G>A (p.Ala675=) rs368209276 0.00011
NM_032634.4(PIGO):c.675C>T (p.Asp225=) rs200656082 0.00011
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.1392C>T (p.Ile464=) rs149790500 0.00006
NM_032634.4(PIGO):c.1488G>A (p.Ala496=) rs140004995 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.3141-15C>T rs368599591 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.1224G>A (p.Gln408=) rs765426156 0.00004
NM_032634.4(PIGO):c.198A>C (p.Arg66=) rs140028855 0.00004
NM_032634.4(PIGO):c.2049C>T (p.Ala683=) rs561156571 0.00004
NM_032634.4(PIGO):c.2421G>A (p.Glu807=) rs573261706 0.00004
NM_032634.4(PIGO):c.3096C>T (p.Ser1032=) rs754771965 0.00004
NM_032634.4(PIGO):c.468C>T (p.His156=) rs374876329 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.90C>T (p.Leu30=) rs145530412 0.00004
NM_032634.4(PIGO):c.1020C>T (p.Ile340=) rs777808521 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.2196C>T (p.Leu732=) rs779088175 0.00003
NM_032634.4(PIGO):c.2205G>T (p.Leu735=) rs565127635 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.54C>T (p.Tyr18=) rs773054712 0.00003
NM_032634.4(PIGO):c.816G>A (p.Leu272=) rs760142386 0.00003
NM_032634.4(PIGO):c.942G>A (p.Glu314=) rs764488316 0.00003
NM_032634.4(PIGO):c.1749C>G (p.Leu583=) rs377734849 0.00002
NM_032634.4(PIGO):c.1815T>G (p.Leu605=) rs553734046 0.00002
NM_032634.4(PIGO):c.1918C>T (p.Arg640Cys) rs552540556 0.00002
NM_032634.4(PIGO):c.2415G>A (p.Gln805=) rs1419929157 0.00002
NM_032634.4(PIGO):c.2634C>T (p.Pro878=) rs534875041 0.00002
NM_032634.4(PIGO):c.2647+12A>C rs765544018 0.00002
NM_032634.4(PIGO):c.264A>C (p.Ser88=) rs758614814 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.3070-15C>T rs201927771 0.00002
NM_032634.4(PIGO):c.3070-6C>T rs751434613 0.00002
NM_032634.4(PIGO):c.3140+13G>C rs374450091 0.00002
NM_032634.4(PIGO):c.537T>C (p.Asp179=) rs761993139 0.00002
NM_032634.4(PIGO):c.807C>T (p.Asp269=) rs369714563 0.00002
NM_032634.4(PIGO):c.940-9T>C rs1056263001 0.00002
NM_032634.4(PIGO):c.1083A>G (p.Leu361=) rs773370567 0.00001
NM_032634.4(PIGO):c.1122G>A (p.Val374=) rs549662606 0.00001
NM_032634.4(PIGO):c.1269T>C (p.Thr423=) rs1399537198 0.00001
NM_032634.4(PIGO):c.1356G>C (p.Ala452=) rs759532728 0.00001
NM_032634.4(PIGO):c.1359G>A (p.Gly453=) rs368706055 0.00001
NM_032634.4(PIGO):c.1416A>T (p.Ala472=) rs749630366 0.00001
NM_032634.4(PIGO):c.1444C>T (p.Leu482=) rs1348890946 0.00001
NM_032634.4(PIGO):c.1644C>T (p.Pro548=) rs776953036 0.00001
NM_032634.4(PIGO):c.1737A>G (p.Ser579=) rs775812284 0.00001
NM_032634.4(PIGO):c.1809C>T (p.Pro603=) rs148443358 0.00001
NM_032634.4(PIGO):c.1844G>A (p.Arg615Gln) rs142897141 0.00001
NM_032634.4(PIGO):c.1869G>A (p.Arg623=) rs1377334648 0.00001
NM_032634.4(PIGO):c.1884G>A (p.Leu628=) rs746618634 0.00001
NM_032634.4(PIGO):c.2082C>G (p.Leu694=) rs781688792 0.00001
NM_032634.4(PIGO):c.2091C>T (p.Pro697=) rs751948800 0.00001
NM_032634.4(PIGO):c.2235G>A (p.Arg745=) rs1286743624 0.00001
NM_032634.4(PIGO):c.2253T>C (p.Ala751=) rs775929587 0.00001
NM_032634.4(PIGO):c.2313A>G (p.Ala771=) rs764827608 0.00001
NM_032634.4(PIGO):c.2316C>T (p.Gly772=) rs761210725 0.00001
NM_032634.4(PIGO):c.237A>G (p.Arg79=) rs376966684 0.00001
NM_032634.4(PIGO):c.2461C>T (p.Leu821=) rs758257961 0.00001
NM_032634.4(PIGO):c.2526G>T (p.Leu842=) rs1587161908 0.00001
NM_032634.4(PIGO):c.2556G>A (p.Ala852=) rs1237736509 0.00001
NM_032634.4(PIGO):c.2574G>C (p.Val858=) rs188635839 0.00001
NM_032634.4(PIGO):c.258G>A (p.Gln86=) rs113007517 0.00001
NM_032634.4(PIGO):c.2647+8T>C rs1413916804 0.00001
NM_032634.4(PIGO):c.2648-18G>A rs1187825054 0.00001
NM_032634.4(PIGO):c.2664A>G (p.Pro888=) rs780598733 0.00001
NM_032634.4(PIGO):c.2673A>G (p.Ala891=) rs754462625 0.00001
NM_032634.4(PIGO):c.2793T>C (p.Cys931=) rs1829368380 0.00001
NM_032634.4(PIGO):c.2811G>A (p.Leu937=) rs1829367601 0.00001
NM_032634.4(PIGO):c.2826C>T (p.Asn942=) rs1197727015 0.00001
NM_032634.4(PIGO):c.2874G>C (p.Leu958=) rs1269359376 0.00001
NM_032634.4(PIGO):c.3070-18C>T rs757401378 0.00001
NM_032634.4(PIGO):c.3135C>T (p.Ala1045=) rs771048903 0.00001
NM_032634.4(PIGO):c.3141-13C>T rs1308554473 0.00001
NM_032634.4(PIGO):c.333G>A (p.Leu111=) rs1334218397 0.00001
NM_032634.4(PIGO):c.348C>T (p.His116=) rs1180613769 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.512-7C>T rs760113080 0.00001
NM_032634.4(PIGO):c.579T>C (p.Ala193=) rs778672240 0.00001
NM_032634.4(PIGO):c.588C>T (p.Phe196=) rs753452597 0.00001
NM_032634.4(PIGO):c.594C>A (p.Ser198=) rs945097037 0.00001
NM_032634.4(PIGO):c.618A>G (p.Thr206=) rs1829567186 0.00001
NM_032634.4(PIGO):c.651C>A (p.Pro217=) rs1215068157 0.00001
NM_032634.4(PIGO):c.655+12G>A rs1396401104 0.00001
NM_032634.4(PIGO):c.777C>T (p.Ile259=) rs752829826 0.00001
NM_032634.4(PIGO):c.780-17C>T rs201657567 0.00001
NM_032634.4(PIGO):c.780-7C>T rs751631767 0.00001
NM_032634.4(PIGO):c.828G>C (p.Gly276=) rs1487288215 0.00001
NM_032634.4(PIGO):c.852A>G (p.Gly284=) rs1371825838 0.00001
NM_032634.4(PIGO):c.939+10G>A rs1587170803 0.00001
NM_032634.4(PIGO):c.978G>A (p.Thr326=) rs1423655238 0.00001
NM_032634.4(PIGO):c.984C>T (p.Ala328=) rs774644826 0.00001
NM_032634.4(PIGO):c.1035T>G (p.Ala345=) rs962272098
NM_032634.4(PIGO):c.1086C>G (p.Ala362=)
NM_032634.4(PIGO):c.1095A>T (p.Ser365=) rs771034645
NM_032634.4(PIGO):c.1113T>C (p.Ala371=)
NM_032634.4(PIGO):c.1119+10C>T
NM_032634.4(PIGO):c.1120-12T>C
NM_032634.4(PIGO):c.1120-15C>T rs77344591
NM_032634.4(PIGO):c.1120-16A>C
NM_032634.4(PIGO):c.1120-17G>C
NM_032634.4(PIGO):c.1120-29_1120-9del
NM_032634.4(PIGO):c.1120-5G>C rs1829493650
NM_032634.4(PIGO):c.1233C>T (p.Leu411=)
NM_032634.4(PIGO):c.1236G>A (p.Gln412=)
NM_032634.4(PIGO):c.1257G>A (p.Ala419=)
NM_032634.4(PIGO):c.1261C>T (p.Leu421=)
NM_032634.4(PIGO):c.1266G>A (p.Pro422=) rs758742085
NM_032634.4(PIGO):c.1281G>A (p.Glu427=) rs1829484190
NM_032634.4(PIGO):c.1335T>A (p.Arg445=) rs2131077185
NM_032634.4(PIGO):c.1344G>C (p.Leu448=)
NM_032634.4(PIGO):c.1356G>A (p.Ala452=) rs759532728
NM_032634.4(PIGO):c.1356G>T (p.Ala452=) rs759532728
NM_032634.4(PIGO):c.1359G>T (p.Gly453=) rs368706055
NM_032634.4(PIGO):c.1428C>T (p.Gly476=)
NM_032634.4(PIGO):c.1434A>T (p.Pro478=)
NM_032634.4(PIGO):c.148C>T (p.Leu50=)
NM_032634.4(PIGO):c.1500C>A (p.Leu500=)
NM_032634.4(PIGO):c.153A>C (p.Pro51=) rs758429983
NM_032634.4(PIGO):c.1575T>C (p.Phe525=) rs2131076597
NM_032634.4(PIGO):c.1578G>T (p.Leu526=)
NM_032634.4(PIGO):c.1587C>T (p.Ala529=)
NM_032634.4(PIGO):c.159G>T (p.Gly53=) rs2131084364
NM_032634.4(PIGO):c.1615C>T (p.Leu539=)
NM_032634.4(PIGO):c.1638T>C (p.Pro546=)
NM_032634.4(PIGO):c.1647C>G (p.Val549=) rs2131076353
NM_032634.4(PIGO):c.1648C>T (p.Leu550=) rs2131076346
NM_032634.4(PIGO):c.1653A>G (p.Leu551=)
NM_032634.4(PIGO):c.1657C>T (p.Leu553=) rs1794940212
NM_032634.4(PIGO):c.1674T>C (p.Ala558=)
NM_032634.4(PIGO):c.1686T>C (p.Ser562=)
NM_032634.4(PIGO):c.1701A>G (p.Val567=)
NM_032634.4(PIGO):c.1719C>T (p.Thr573=) rs2131076194
NM_032634.4(PIGO):c.1722C>T (p.Pro574=)
NM_032634.4(PIGO):c.1729T>C (p.Leu577=) rs2131076165
NM_032634.4(PIGO):c.1740C>T (p.Phe580=)
NM_032634.4(PIGO):c.1758C>G (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1758C>T (p.Val586=) rs144103228
NM_032634.4(PIGO):c.1761G>A (p.Gln587=) rs1587165620
NM_032634.4(PIGO):c.1821T>G (p.Thr607=)
NM_032634.4(PIGO):c.1824A>C (p.Ser608=)
NM_032634.4(PIGO):c.1887T>C (p.Leu629=)
NM_032634.4(PIGO):c.1932G>A (p.Glu644=)
NM_032634.4(PIGO):c.2025G>T (p.Ala675=)
NM_032634.4(PIGO):c.2028G>A (p.Ala676=)
NM_032634.4(PIGO):c.2038C>T (p.Leu680=) rs2131075299
NM_032634.4(PIGO):c.2040G>A (p.Leu680=) rs41274877
NM_032634.4(PIGO):c.2070C>T (p.Arg690=) rs770497870
NM_032634.4(PIGO):c.2106C>G (p.Leu702=) rs1829433013
NM_032634.4(PIGO):c.2106C>T (p.Leu702=)
NM_032634.4(PIGO):c.210T>C (p.Val70=) rs1829622496
NM_032634.4(PIGO):c.2169G>T (p.Ser723=) rs780502790
NM_032634.4(PIGO):c.2193T>G (p.Arg731=)
NM_032634.4(PIGO):c.219G>A (p.Val73=)
NM_032634.4(PIGO):c.2205G>C (p.Leu735=) rs565127635
NM_032634.4(PIGO):c.2220C>G (p.Ser740=) rs752508027
NM_032634.4(PIGO):c.2265C>T (p.Leu755=) rs746204138
NM_032634.4(PIGO):c.2289G>A (p.Val763=) rs751387350
NM_032634.4(PIGO):c.2307T>C (p.Ala769=) rs1829420389
NM_032634.4(PIGO):c.2325G>A (p.Arg775=)
NM_032634.4(PIGO):c.2331G>A (p.Arg777=)
NM_032634.4(PIGO):c.2340C>T (p.Leu780=) rs1437561417
NM_032634.4(PIGO):c.2352A>G (p.Ser784=) rs1013303269
NM_032634.4(PIGO):c.2361C>A (p.Pro787=) rs144233446
NM_032634.4(PIGO):c.2361C>T (p.Pro787=) rs144233446
NM_032634.4(PIGO):c.2364T>C (p.Thr788=)
NM_032634.4(PIGO):c.2364T>G (p.Thr788=) rs571101716
NM_032634.4(PIGO):c.2370A>G (p.Gln790=)
NM_032634.4(PIGO):c.2379G>A (p.Leu793=)
NM_032634.4(PIGO):c.2400C>A (p.Ile800=)
NM_032634.4(PIGO):c.2406A>G (p.Arg802=) rs2131073918
NM_032634.4(PIGO):c.240T>C (p.Phe80=)
NM_032634.4(PIGO):c.2448A>G (p.Lys816=)
NM_032634.4(PIGO):c.246C>T (p.Phe82=) rs748671184
NM_032634.4(PIGO):c.2499A>G (p.Ser833=)
NM_032634.4(PIGO):c.2499A>T (p.Ser833=) rs2131073558
NM_032634.4(PIGO):c.2524C>T (p.Leu842=) rs1381492177
NM_032634.4(PIGO):c.2553T>C (p.His851=) rs776946348
NM_032634.4(PIGO):c.2574G>A (p.Val858=)
NM_032634.4(PIGO):c.2598C>T (p.Ser866=) rs2131073379
NM_032634.4(PIGO):c.2607C>T (p.Leu869=) rs1587161703
NM_032634.4(PIGO):c.2616G>C (p.Leu872=)
NM_032634.4(PIGO):c.2647+14C>T
NM_032634.4(PIGO):c.2647+15T>C
NM_032634.4(PIGO):c.2647+7A>T rs763374350
NM_032634.4(PIGO):c.2648-16A>G
NM_032634.4(PIGO):c.2648-7C>T
NM_032634.4(PIGO):c.2649T>C (p.Gly883=)
NM_032634.4(PIGO):c.267C>T (p.His89=) rs781454559
NM_032634.4(PIGO):c.2682T>C (p.Ala894=)
NM_032634.4(PIGO):c.2700A>C (p.Thr900=) rs749138418
NM_032634.4(PIGO):c.2784T>C (p.His928=)
NM_032634.4(PIGO):c.279G>A (p.Glu93=) rs1192285768
NM_032634.4(PIGO):c.2832T>C (p.Phe944=)
NM_032634.4(PIGO):c.2854+19C>T
NM_032634.4(PIGO):c.2854+7C>G rs768338180
NM_032634.4(PIGO):c.2855-19A>G rs1829357503
NM_032634.4(PIGO):c.2855-20C>T
NM_032634.4(PIGO):c.2871C>T (p.Leu957=) rs760439971
NM_032634.4(PIGO):c.2889G>A (p.Leu963=) rs959471469
NM_032634.4(PIGO):c.28C>T (p.Leu10=) rs2131084852
NM_032634.4(PIGO):c.2901A>G (p.Gln967=)
NM_032634.4(PIGO):c.2958C>T (p.Pro986=) rs368361555
NM_032634.4(PIGO):c.2967A>G (p.Glu989=)
NM_032634.4(PIGO):c.2979G>A (p.Leu993=) rs1554672011
NM_032634.4(PIGO):c.297C>T (p.Pro99=)
NM_032634.4(PIGO):c.2991G>C (p.Arg997=)
NM_032634.4(PIGO):c.3003G>A (p.Ala1001=) rs1367586941
NM_032634.4(PIGO):c.3048C>T (p.Tyr1016=) rs1587157717
NM_032634.4(PIGO):c.3066T>A (p.Ile1022=)
NM_032634.4(PIGO):c.3070-12C>T
NM_032634.4(PIGO):c.3070-12CTC[2] rs1462457627
NM_032634.4(PIGO):c.3070-14_3070-12del rs2131069422
NM_032634.4(PIGO):c.3073C>T (p.Leu1025=)
NM_032634.4(PIGO):c.3078C>T (p.Ala1026=) rs2131069378
NM_032634.4(PIGO):c.3099C>T (p.Ile1033=)
NM_032634.4(PIGO):c.3126A>G (p.Lys1042=)
NM_032634.4(PIGO):c.3140+11T>A
NM_032634.4(PIGO):c.3141-19T>G
NM_032634.4(PIGO):c.3141-9T>A rs374227554
NM_032634.4(PIGO):c.3141-9T>C rs374227554
NM_032634.4(PIGO):c.3174C>T (p.Ser1058=) rs1587155037
NM_032634.4(PIGO):c.3198A>T (p.Ile1066=)
NM_032634.4(PIGO):c.3207G>A (p.Val1069=) rs2131068725
NM_032634.4(PIGO):c.3216G>T (p.Val1072=)
NM_032634.4(PIGO):c.3219T>C (p.Asp1073=)
NM_032634.4(PIGO):c.3231C>T (p.Ser1077=) rs766677182
NM_032634.4(PIGO):c.3267G>A (p.Arg1089=) rs771354621
NM_032634.4(PIGO):c.366A>G (p.Arg122=)
NM_032634.4(PIGO):c.387C>A (p.Thr129=) rs765968784
NM_032634.4(PIGO):c.390C>G (p.Thr130=)
NM_032634.4(PIGO):c.399G>A (p.Gln133=) rs1829608764
NM_032634.4(PIGO):c.414C>T (p.Leu138=)
NM_032634.4(PIGO):c.417C>A (p.Thr139=) rs1829607462
NM_032634.4(PIGO):c.420T>G (p.Thr140=)
NM_032634.4(PIGO):c.511+7G>A
NM_032634.4(PIGO):c.513A>G (p.Gly171=) rs2131081904
NM_032634.4(PIGO):c.534A>G (p.Gly178=)
NM_032634.4(PIGO):c.558C>T (p.Phe186=) rs2131081766
NM_032634.4(PIGO):c.572C>T (p.Ser191Phe) rs779897930
NM_032634.4(PIGO):c.591A>T (p.Pro197=) rs1564000769
NM_032634.4(PIGO):c.615C>T (p.Asp205=) rs763427139
NM_032634.4(PIGO):c.636G>C (p.Leu212=)
NM_032634.4(PIGO):c.655+7A>G rs118002220
NM_032634.4(PIGO):c.656-10C>T rs2131081122
NM_032634.4(PIGO):c.656-16G>T
NM_032634.4(PIGO):c.656-9C>T
NM_032634.4(PIGO):c.681G>A (p.Leu227=) rs1169009367
NM_032634.4(PIGO):c.681G>C (p.Leu227=) rs1169009367
NM_032634.4(PIGO):c.687T>C (p.Ala229=) rs375778167
NM_032634.4(PIGO):c.696G>T (p.Leu232=)
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.779+12G>A
NM_032634.4(PIGO):c.779+17G>T
NM_032634.4(PIGO):c.780-6C>A
NM_032634.4(PIGO):c.879G>A (p.Glu293=) rs753637423
NM_032634.4(PIGO):c.888T>C (p.Ala296=) rs2131079797
NM_032634.4(PIGO):c.927C>T (p.Ser309=)
NM_032634.4(PIGO):c.936A>G (p.Pro312=) rs148844555
NM_032634.4(PIGO):c.939+15G>A
NM_032634.4(PIGO):c.939+15G>T
NM_032634.4(PIGO):c.939+17T>G
NM_032634.4(PIGO):c.940-15G>A
NM_032634.4(PIGO):c.940-18A>G
NM_032634.4(PIGO):c.951G>T (p.Val317=)
NM_032634.4(PIGO):c.966C>T (p.Ser322=) rs2131078980
NM_032634.4(PIGO):c.996C>T (p.Gly332=)
NM_032634.4(PIGO):c.9A>G (p.Lys3=) rs2131084921

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