ClinVar Miner

List of variants in gene GAN reported as uncertain significance for Giant axonal neuropathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 361
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HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.1086+71C>T rs12448327 0.18756
NM_022041.4(GAN):c.*1268C>T rs182391687 0.00845
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_022041.4(GAN):c.*816T>C rs188599282 0.00144
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_022041.4(GAN):c.*1336G>A rs150666164 0.00121
NM_022041.4(GAN):c.*495G>A rs558701236 0.00113
NM_022041.4(GAN):c.*1002T>A rs552489170 0.00107
NM_022041.4(GAN):c.*1029C>T rs189688967 0.00058
NM_022041.4(GAN):c.730A>G (p.Ile244Val) rs200749953 0.00051
NM_022041.4(GAN):c.*32C>A rs200964845 0.00048
NM_022041.4(GAN):c.*1943T>C rs751490334 0.00039
NM_022041.4(GAN):c.*2532T>C rs528796667 0.00037
NM_022041.4(GAN):c.*1368T>C rs568868279 0.00031
NM_022041.4(GAN):c.*1138A>G rs554886016 0.00026
NM_022041.4(GAN):c.974-11G>C rs753746307 0.00026
NM_022041.4(GAN):c.*1883C>G rs76019247 0.00024
NM_022041.4(GAN):c.670T>G (p.Ser224Ala) rs139055455 0.00022
NM_022041.4(GAN):c.973+6G>A rs372665411 0.00022
NM_022041.4(GAN):c.283-14T>C rs369700456 0.00019
NM_022041.4(GAN):c.1323T>C (p.Tyr441=) rs368072478 0.00011
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_022041.4(GAN):c.*551C>T rs886052341 0.00010
NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys) rs147864771 0.00010
NM_022041.4(GAN):c.1630G>A (p.Val544Met) rs200071978 0.00010
NM_022041.4(GAN):c.1199C>G (p.Thr400Ser) rs368571975 0.00009
NM_022041.4(GAN):c.671C>T (p.Ser224Leu) rs554667758 0.00008
NM_022041.4(GAN):c.846G>C (p.Glu282Asp) rs778114770 0.00007
NM_022041.4(GAN):c.1327C>A (p.Pro443Thr) rs150043237 0.00006
NM_022041.4(GAN):c.1444G>A (p.Ala482Thr) rs369693274 0.00006
NM_022041.4(GAN):c.782C>T (p.Ala261Val) rs574374537 0.00006
NM_022041.4(GAN):c.795C>G (p.Asn265Lys) rs373811145 0.00006
NM_022041.4(GAN):c.*2019A>G rs886052347 0.00005
NM_022041.4(GAN):c.*810C>A rs886052342 0.00005
NM_022041.4(GAN):c.1208A>G (p.Lys403Arg) rs780241559 0.00005
NM_022041.4(GAN):c.*2350T>A rs369040399 0.00004
NM_022041.4(GAN):c.1148A>T (p.Asp383Val) rs768562044 0.00004
NM_022041.4(GAN):c.1519G>A (p.Asp507Asn) rs775432106 0.00004
NM_022041.4(GAN):c.1715C>G (p.Ala572Gly) rs778978997 0.00004
NM_022041.4(GAN):c.1777C>T (p.Arg593Cys) rs886052336 0.00004
NM_022041.4(GAN):c.444C>T (p.His148=) rs764605890 0.00004
NM_022041.4(GAN):c.445G>A (p.Val149Ile) rs369703737 0.00004
NM_022041.4(GAN):c.682T>C (p.Ser228Pro) rs150589329 0.00004
NM_022041.4(GAN):c.*544C>G rs141552591 0.00003
NM_022041.4(GAN):c.1147G>A (p.Asp383Asn) rs181568741 0.00003
NM_022041.4(GAN):c.1195A>G (p.Lys399Glu) rs368231984 0.00003
NM_022041.4(GAN):c.1373+5G>A rs370881573 0.00003
NM_022041.4(GAN):c.1634G>A (p.Arg545His) rs746486469 0.00003
NM_022041.4(GAN):c.1778G>A (p.Arg593His) rs751430474 0.00003
NM_022041.4(GAN):c.238G>C (p.Val80Leu) rs146629249 0.00003
NM_022041.4(GAN):c.283-15A>G rs754182168 0.00003
NM_022041.4(GAN):c.479A>G (p.His160Arg) rs373474009 0.00003
NM_022041.4(GAN):c.490G>A (p.Val164Ile) rs778744880 0.00003
NM_022041.4(GAN):c.701A>T (p.Gln234Leu) rs1323162015 0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) rs776397915 0.00003
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00003
NM_022041.4(GAN):c.*1557C>A rs528748555 0.00002
NM_022041.4(GAN):c.*1747A>G rs886052346 0.00002
NM_022041.4(GAN):c.*381G>A rs886052340 0.00002
NM_022041.4(GAN):c.1016A>G (p.Gln339Arg) rs1462816857 0.00002
NM_022041.4(GAN):c.1045C>T (p.Pro349Ser) rs374004725 0.00002
NM_022041.4(GAN):c.1171A>G (p.Met391Val) rs367600164 0.00002
NM_022041.4(GAN):c.1368G>C (p.Glu456Asp) rs1034754708 0.00002
NM_022041.4(GAN):c.1388C>T (p.Ala463Val) rs200342055 0.00002
NM_022041.4(GAN):c.1518C>T (p.Asn506=) rs886052333 0.00002
NM_022041.4(GAN):c.1678C>T (p.Leu560Phe) rs143179676 0.00002
NM_022041.4(GAN):c.311A>G (p.Asp104Gly) rs773783945 0.00002
NM_022041.4(GAN):c.625A>G (p.Ile209Val) rs369789553 0.00002
NM_022041.4(GAN):c.755C>T (p.Pro252Leu) rs768875907 0.00002
NM_022041.4(GAN):c.761G>A (p.Ser254Asn) rs748422716 0.00002
NM_022041.4(GAN):c.862C>G (p.Pro288Ala) rs1249160013 0.00002
NM_022041.4(GAN):c.*1102A>G rs1394891003 0.00001
NM_022041.4(GAN):c.*2027T>A rs886052348 0.00001
NM_022041.4(GAN):c.*2492T>A rs886052354 0.00001
NM_022041.4(GAN):c.1017G>A (p.Gln339=) rs201451382 0.00001
NM_022041.4(GAN):c.1084G>A (p.Glu362Lys) rs587779384 0.00001
NM_022041.4(GAN):c.1102G>A (p.Gly368Arg) rs758756818 0.00001
NM_022041.4(GAN):c.1123A>T (p.Met375Leu) rs201252856 0.00001
NM_022041.4(GAN):c.1165A>T (p.Ile389Phe) rs1471052510 0.00001
NM_022041.4(GAN):c.1193C>G (p.Ser398Cys) rs1334144379 0.00001
NM_022041.4(GAN):c.1229T>G (p.Val410Gly) rs1484191388 0.00001
NM_022041.4(GAN):c.1241G>A (p.Gly414Asp) rs761827117 0.00001
NM_022041.4(GAN):c.1252G>C (p.Ala418Pro) rs752800283 0.00001
NM_022041.4(GAN):c.1276A>G (p.Met426Val) rs757050107 0.00001
NM_022041.4(GAN):c.1382C>T (p.Ala461Val) rs753748994 0.00001
NM_022041.4(GAN):c.1384G>A (p.Val462Met) rs199870222 0.00001
NM_022041.4(GAN):c.1391G>A (p.Cys464Tyr) rs777535272 0.00001
NM_022041.4(GAN):c.1398T>C (p.Val466=) rs756485979 0.00001
NM_022041.4(GAN):c.1402A>G (p.Met468Val) rs375408288 0.00001
NM_022041.4(GAN):c.1412A>G (p.Tyr471Cys) rs769076379 0.00001
NM_022041.4(GAN):c.1430G>A (p.Arg477Gln) rs748209210 0.00001
NM_022041.4(GAN):c.1436G>A (p.Arg479His) rs750919773 0.00001
NM_022041.4(GAN):c.1447C>T (p.Gln483Ter) rs119485089 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.1477G>A (p.Glu493Lys) rs780427229 0.00001
NM_022041.4(GAN):c.1494G>C (p.Glu498Asp) rs755423556 0.00001
NM_022041.4(GAN):c.1499A>G (p.Lys500Arg) rs199515586 0.00001
NM_022041.4(GAN):c.1505G>A (p.Trp502Ter) rs1597414001 0.00001
NM_022041.4(GAN):c.1612+4A>G rs376218401 0.00001
NM_022041.4(GAN):c.1624G>A (p.Asp542Asn) rs747972511 0.00001
NM_022041.4(GAN):c.1628A>G (p.Tyr543Cys) rs879253958 0.00001
NM_022041.4(GAN):c.1658C>A (p.Thr553Asn) rs759200321 0.00001
NM_022041.4(GAN):c.168-5C>G rs1355051159 0.00001
NM_022041.4(GAN):c.1714G>C (p.Ala572Pro) rs554430005 0.00001
NM_022041.4(GAN):c.173A>G (p.Lys58Arg) rs1265285256 0.00001
NM_022041.4(GAN):c.1772G>A (p.Arg591His) rs777556243 0.00001
NM_022041.4(GAN):c.236C>T (p.Ser79Leu) rs1310137430 0.00001
NM_022041.4(GAN):c.244G>C (p.Val82Leu) rs371054532 0.00001
NM_022041.4(GAN):c.247A>G (p.Met83Val) rs770847887 0.00001
NM_022041.4(GAN):c.282G>A (p.Gln94=) rs1039007762 0.00001
NM_022041.4(GAN):c.295G>A (p.Glu99Lys) rs746154353 0.00001
NM_022041.4(GAN):c.403A>G (p.Ile135Val) rs748121633 0.00001
NM_022041.4(GAN):c.417C>G (p.Asp139Glu) rs770618198 0.00001
NM_022041.4(GAN):c.428A>G (p.His143Arg) rs1330501647 0.00001
NM_022041.4(GAN):c.471G>A (p.Leu157=) rs143704621 0.00001
NM_022041.4(GAN):c.500C>T (p.Thr167Met) rs143187097 0.00001
NM_022041.4(GAN):c.545T>A (p.Ile182Asn) rs1258332075 0.00001
NM_022041.4(GAN):c.565G>A (p.Val189Ile) rs766484755 0.00001
NM_022041.4(GAN):c.572A>G (p.Asn191Ser) rs139748896 0.00001
NM_022041.4(GAN):c.580T>G (p.Tyr194Asp) rs1910428014 0.00001
NM_022041.4(GAN):c.601C>T (p.Arg201Ter) rs119485090 0.00001
NM_022041.4(GAN):c.602G>A (p.Arg201Gln) rs967957134 0.00001
NM_022041.4(GAN):c.634-6C>T rs199874705 0.00001
NM_022041.4(GAN):c.637C>A (p.His213Asn) rs755664230 0.00001
NM_022041.4(GAN):c.638A>G (p.His213Arg) rs749117247 0.00001
NM_022041.4(GAN):c.642G>A (p.Met214Ile) rs374659636 0.00001
NM_022041.4(GAN):c.695G>A (p.Arg232Gln) rs760587601 0.00001
NM_022041.4(GAN):c.715C>G (p.Pro239Ala) rs184128641 0.00001
NM_022041.4(GAN):c.725G>A (p.Arg242Gln) rs371906996 0.00001
NM_022041.4(GAN):c.743G>A (p.Cys248Tyr) rs377034780 0.00001
NM_022041.4(GAN):c.787C>A (p.Leu263Met) rs777669477 0.00001
NM_022041.4(GAN):c.801A>G (p.Lys267=) rs746799355 0.00001
NM_022041.4(GAN):c.856C>T (p.Arg286Trp) rs756000444 0.00001
NM_022041.4(GAN):c.868G>T (p.Ala290Ser) rs943541215 0.00001
NM_022041.4(GAN):c.877C>T (p.Arg293Ter) rs370358470 0.00001
NM_022041.4(GAN):c.884T>C (p.Met295Thr) rs747687913 0.00001
NM_022041.4(GAN):c.896A>G (p.Tyr299Cys) rs1254823893 0.00001
NM_022041.4(GAN):c.937A>G (p.Ser313Gly) rs751666826 0.00001
NM_022041.4(GAN):c.955C>A (p.His319Asn) rs779893652 0.00001
NM_022041.4(GAN):c.971C>T (p.Ala324Val) rs778244338 0.00001
NC_000016.9:g.(?_81348719)_(81348905_?)dup
NC_000016.9:g.(?_81348719)_(81396236_?)dup
NC_000016.9:g.(?_81348719)_(81411201_?)dup
NC_000016.9:g.(?_81396084)_(81411201_?)dup
NM_022041.4(GAN):c.*1455del rs3214897
NM_022041.4(GAN):c.*1455dup rs3214897
NM_022041.4(GAN):c.*1585T>C rs886052344
NM_022041.4(GAN):c.*1659del rs546229255
NM_022041.4(GAN):c.*1670C>T rs569008014
NM_022041.4(GAN):c.*176G>T rs1196229669
NM_022041.4(GAN):c.*1820G>A rs561770690
NM_022041.4(GAN):c.*2125A>G rs1904295878
NM_022041.4(GAN):c.*214C>T rs886052338
NM_022041.4(GAN):c.*2280G>C rs886052349
NM_022041.4(GAN):c.*2332del rs533512036
NM_022041.4(GAN):c.*2332dup rs533512036
NM_022041.4(GAN):c.*2457T>C rs886052352
NM_022041.4(GAN):c.*2485A>G rs886052353
NM_022041.4(GAN):c.*291A>G rs541752526
NM_022041.4(GAN):c.*360G>A rs886052339
NM_022041.4(GAN):c.*360G>T rs886052339
NM_022041.4(GAN):c.*45T>C rs886052337
NM_022041.4(GAN):c.*644T>C rs1006920510
NM_022041.4(GAN):c.*733G>A rs530029543
NM_022041.4(GAN):c.-111G>A rs12929567
NM_022041.4(GAN):c.1012A>G (p.Lys338Glu)
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.4(GAN):c.1015C>G (p.Gln339Glu) rs759342719
NM_022041.4(GAN):c.1022T>C (p.Leu341Pro) rs1555511769
NM_022041.4(GAN):c.1037A>G (p.Lys346Arg) rs2150690226
NM_022041.4(GAN):c.1045C>G (p.Pro349Ala) rs374004725
NM_022041.4(GAN):c.1048G>A (p.Asp350Asn)
NM_022041.4(GAN):c.1051G>T (p.Ala351Ser)
NM_022041.4(GAN):c.1086+1G>C rs1597405785
NM_022041.4(GAN):c.1094A>G (p.His365Arg)
NM_022041.4(GAN):c.1101C>A (p.Phe367Leu)
NM_022041.4(GAN):c.1118A>T (p.Asp373Val)
NM_022041.4(GAN):c.1123A>G (p.Met375Val) rs201252856
NM_022041.4(GAN):c.1139G>T (p.Gly380Val) rs1427637335
NM_022041.4(GAN):c.1177T>C (p.Cys393Arg)
NM_022041.4(GAN):c.1178G>A (p.Cys393Tyr) rs951138056
NM_022041.4(GAN):c.1179T>A (p.Cys393Ter) rs1597406427
NM_022041.4(GAN):c.1183G>A (p.Asp395Asn) rs142456623
NM_022041.4(GAN):c.1183G>C (p.Asp395His) rs142456623
NM_022041.4(GAN):c.1199C>T (p.Thr400Ile) rs368571975
NM_022041.4(GAN):c.1203G>A (p.Trp401Ter) rs1349484624
NM_022041.4(GAN):c.1205C>T (p.Thr402Ile)
NM_022041.4(GAN):c.1210C>G (p.Gln404Glu) rs1190709905
NM_022041.4(GAN):c.1213C>A (p.Pro405Thr) rs912274293
NM_022041.4(GAN):c.1220T>C (p.Leu407Ser)
NM_022041.4(GAN):c.1228G>A (p.Val410Ile)
NM_022041.4(GAN):c.1236+7A>T rs1910763781
NM_022041.4(GAN):c.1237-1G>A rs1597407007
NM_022041.4(GAN):c.1240G>A (p.Gly414Ser)
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022041.4(GAN):c.1273G>A (p.Ala425Thr)
NM_022041.4(GAN):c.1310C>G (p.Ser437Cys) rs1464376673
NM_022041.4(GAN):c.1312G>A (p.Val438Ile) rs1246053880
NM_022041.4(GAN):c.1315G>A (p.Glu439Lys) rs2150691652
NM_022041.4(GAN):c.1327C>G (p.Pro443Ala) rs150043237
NM_022041.4(GAN):c.1334C>T (p.Thr445Ile)
NM_022041.4(GAN):c.1343G>T (p.Trp448Leu) rs1597407111
NM_022041.4(GAN):c.1360C>G (p.Leu454Val)
NM_022041.4(GAN):c.1367_1369del (p.Glu456_Arg457delinsGly) rs1910807452
NM_022041.4(GAN):c.1373+4C>G rs137934652
NM_022041.4(GAN):c.1373+4C>T rs137934652
NM_022041.4(GAN):c.1381G>A (p.Ala461Thr) rs766155831
NM_022041.4(GAN):c.1381_1382delinsTT (p.Ala461Leu) rs1597407293
NM_022041.4(GAN):c.1382C>A (p.Ala461Glu) rs753748994
NM_022041.4(GAN):c.1402A>T (p.Met468Leu) rs375408288
NM_022041.4(GAN):c.1412A>T (p.Tyr471Phe) rs769076379
NM_022041.4(GAN):c.1417T>C (p.Phe473Leu)
NM_022041.4(GAN):c.1418T>C (p.Phe473Ser) rs1910819905
NM_022041.4(GAN):c.1420G>C (p.Gly474Arg) rs1435035575
NM_022041.4(GAN):c.1429C>T (p.Arg477Ter) rs119485094
NM_022041.4(GAN):c.1442A>G (p.Asp481Gly) rs1713848888
NM_022041.4(GAN):c.1442A>T (p.Asp481Val) rs1713848888
NM_022041.4(GAN):c.1474T>G (p.Ser492Ala) rs1597407371
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_022041.4(GAN):c.1502+4A>G rs748724208
NM_022041.4(GAN):c.1503-2A>G
NM_022041.4(GAN):c.1506G>T (p.Trp502Cys) rs1324877107
NM_022041.4(GAN):c.1525A>C (p.Asn509His)
NM_022041.4(GAN):c.1529T>G (p.Leu510Ter)
NM_022041.4(GAN):c.1537C>G (p.Pro513Ala)
NM_022041.4(GAN):c.1540G>C (p.Ala514Pro) rs761202265
NM_022041.4(GAN):c.1544G>C (p.Ser515Thr) rs2150698818
NM_022041.4(GAN):c.1549T>C (p.Ser517Pro) rs1567501233
NM_022041.4(GAN):c.1553_1554del (p.Phe518fs) rs1597414034
NM_022041.4(GAN):c.1565C>T (p.Ala522Val) rs1904284654
NM_022041.4(GAN):c.1577G>T (p.Gly526Val) rs1904284720
NM_022041.4(GAN):c.1616C>G (p.Thr539Ser)
NM_022041.4(GAN):c.1629C>A (p.Tyr543Ter)
NM_022041.4(GAN):c.1633C>T (p.Arg545Cys) rs112201678
NM_022041.4(GAN):c.1634G>T (p.Arg545Leu) rs746486469
NM_022041.4(GAN):c.1651A>G (p.Thr551Ala)
NM_022041.4(GAN):c.1658C>G (p.Thr553Ser) rs759200321
NM_022041.4(GAN):c.1658C>T (p.Thr553Ile)
NM_022041.4(GAN):c.1665C>G (p.His555Gln) rs886052334
NM_022041.4(GAN):c.168-1G>A rs1597399963
NM_022041.4(GAN):c.1688C>G (p.Ser563Cys) rs1378724061
NM_022041.4(GAN):c.1690G>C (p.Asp564His) rs755259336
NM_022041.4(GAN):c.1690dup (p.Asp564fs)
NM_022041.4(GAN):c.1697G>A (p.Arg566His)
NM_022041.4(GAN):c.1699C>A (p.Arg567Ser) rs886052335
NM_022041.4(GAN):c.1699C>T (p.Arg567Cys) rs886052335
NM_022041.4(GAN):c.1703C>T (p.Thr568Ile) rs2150698993
NM_022041.4(GAN):c.1707A>G (p.Gly569=) rs942456904
NM_022041.4(GAN):c.1709G>A (p.Cys570Tyr) rs1597414244
NM_022041.4(GAN):c.170C>T (p.Thr57Ile) rs2150683797
NM_022041.4(GAN):c.1720C>T (p.Arg574Cys) rs1567501486
NM_022041.4(GAN):c.1721G>A (p.Arg574His) rs1394459173
NM_022041.4(GAN):c.1723A>G (p.Ile575Val)
NM_022041.4(GAN):c.1723A>T (p.Ile575Phe)
NM_022041.4(GAN):c.1727C>T (p.Ala576Val)
NM_022041.4(GAN):c.1734C>G (p.Cys578Trp) rs1904285898
NM_022041.4(GAN):c.1744C>T (p.Arg582Cys) rs772385806
NM_022041.4(GAN):c.1745G>A (p.Arg582His) rs773845697
NM_022041.4(GAN):c.1745G>T (p.Arg582Leu)
NM_022041.4(GAN):c.1748T>C (p.Leu583Pro) rs766504625
NM_022041.4(GAN):c.1758G>C (p.Gln586His)
NM_022041.4(GAN):c.1771C>T (p.Arg591Cys)
NM_022041.4(GAN):c.1783C>T (p.His595Tyr) rs757216350
NM_022041.4(GAN):c.1792del (p.Ter598GluextTer?) rs755084684
NM_022041.4(GAN):c.182A>G (p.Tyr61Cys)
NM_022041.4(GAN):c.188C>T (p.Pro63Leu) rs1400059269
NM_022041.4(GAN):c.198T>G (p.Asp66Glu) rs1910302068
NM_022041.4(GAN):c.200A>G (p.Asp67Gly) rs2150683815
NM_022041.4(GAN):c.213T>A (p.Tyr71Ter) rs750735081
NM_022041.4(GAN):c.218T>C (p.Ile73Thr) rs377294873
NM_022041.4(GAN):c.224T>A (p.Leu75His) rs1597399997
NM_022041.4(GAN):c.238G>T (p.Val80Leu) rs146629249
NM_022041.4(GAN):c.244G>T (p.Val82Phe) rs371054532
NM_022041.4(GAN):c.256A>T (p.Ile86Phe) rs1597400020
NM_022041.4(GAN):c.260T>G (p.Leu87Arg)
NM_022041.4(GAN):c.266A>G (p.Tyr89Cys) rs1597400024
NM_022041.4(GAN):c.274A>C (p.Ser92Arg) rs1910305049
NM_022041.4(GAN):c.275G>T (p.Ser92Ile) rs1910305133
NM_022041.4(GAN):c.282+3A>C rs1597400032
NM_022041.4(GAN):c.283-3T>A rs1910414763
NM_022041.4(GAN):c.288G>T (p.Arg96Ser)
NM_022041.4(GAN):c.289C>G (p.Leu97Val)
NM_022041.4(GAN):c.293A>G (p.Asn98Ser)
NM_022041.4(GAN):c.304A>G (p.Ile102Val) rs779968294
NM_022041.4(GAN):c.305T>C (p.Ile102Thr) rs1597401492
NM_022041.4(GAN):c.313GTT[1] (p.Val106del) rs1567491395
NM_022041.4(GAN):c.314T>C (p.Val105Ala) rs761334418
NM_022041.4(GAN):c.322G>A (p.Ala108Thr) rs771660619
NM_022041.4(GAN):c.325G>C (p.Ala109Pro) rs1488932475
NM_022041.4(GAN):c.338T>G (p.Leu113Arg) rs1910417649
NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del) rs1597401516
NM_022041.4(GAN):c.348C>G (p.Asp116Glu)
NM_022041.4(GAN):c.356C>G (p.Thr119Ser) rs750608407
NM_022041.4(GAN):c.358C>A (p.Leu120Met) rs113655220
NM_022041.4(GAN):c.362G>A (p.Cys121Tyr) rs2150685581
NM_022041.4(GAN):c.371T>G (p.Phe124Cys) rs1597401545
NM_022041.4(GAN):c.381C>G (p.Gly127=)
NM_022041.4(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.4(GAN):c.427C>G (p.His143Asp) rs1910421613
NM_022041.4(GAN):c.431A>G (p.Tyr144Cys) rs1910421798
NM_022041.4(GAN):c.440A>G (p.His147Arg) rs763438490
NM_022041.4(GAN):c.442C>G (p.His148Asp) rs1910422294
NM_022041.4(GAN):c.476C>T (p.Thr159Ile) rs1201363054
NM_022041.4(GAN):c.478C>T (p.His160Tyr)
NM_022041.4(GAN):c.484C>G (p.Arg162Gly)
NM_022041.4(GAN):c.484C>T (p.Arg162Ter) rs1300267158
NM_022041.4(GAN):c.485G>A (p.Arg162Gln)
NM_022041.4(GAN):c.487G>C (p.Asp163His) rs1910424038
NM_022041.4(GAN):c.497G>C (p.Ser166Thr) rs758366654
NM_022041.4(GAN):c.497G>T (p.Ser166Ile)
NM_022041.4(GAN):c.505G>A (p.Glu169Lys) rs119485095
NM_022041.4(GAN):c.510C>G (p.Phe170Leu) rs1401068154
NM_022041.4(GAN):c.517C>G (p.Leu173Val) rs1910425442
NM_022041.4(GAN):c.531G>C (p.Lys177Asn)
NM_022041.4(GAN):c.538G>C (p.Glu180Gln) rs768074318
NM_022041.4(GAN):c.564C>G (p.Asn188Lys) rs201884522
NM_022041.4(GAN):c.565G>T (p.Val189Phe) rs766484755
NM_022041.4(GAN):c.575A>G (p.Glu192Gly) rs1597401698
NM_022041.4(GAN):c.581A>T (p.Tyr194Phe) rs1567491555
NM_022041.4(GAN):c.583G>T (p.Val195Phe) rs1432344872
NM_022041.4(GAN):c.614A>G (p.His205Arg)
NM_022041.4(GAN):c.633+1G>T rs1597401738
NM_022041.4(GAN):c.633G>C (p.Lys211Asn) rs201676105
NM_022041.4(GAN):c.640A>G (p.Met214Val) rs778132221
NM_022041.4(GAN):c.640A>T (p.Met214Leu) rs778132221
NM_022041.4(GAN):c.647A>T (p.Asp216Val) rs1367661696
NM_022041.4(GAN):c.675G>T (p.Gly225=) rs1201072918
NM_022041.4(GAN):c.683C>A (p.Ser228Tyr) rs1301648787
NM_022041.4(GAN):c.703A>G (p.Met235Val)
NM_022041.4(GAN):c.705G>A (p.Met235Ile) rs1910503027
NM_022041.4(GAN):c.724C>T (p.Arg242Ter) rs764816887
NM_022041.4(GAN):c.732del (p.Ile244fs) rs1597402826
NM_022041.4(GAN):c.767C>A (p.Pro256Gln) rs773154188
NM_022041.4(GAN):c.767C>T (p.Pro256Leu)
NM_022041.4(GAN):c.794A>G (p.Asn265Ser) rs982338741
NM_022041.4(GAN):c.800A>G (p.Lys267Arg) rs777669948
NM_022041.4(GAN):c.803C>T (p.Pro268Leu)
NM_022041.4(GAN):c.804C>G (p.Pro268=)
NM_022041.4(GAN):c.815C>G (p.Ser272Cys)
NM_022041.4(GAN):c.830C>G (p.Thr277Ser)
NM_022041.4(GAN):c.833T>C (p.Val278Ala)
NM_022041.4(GAN):c.838G>A (p.Gly280Arg) rs1270020554
NM_022041.4(GAN):c.851+7A>G
NM_022041.4(GAN):c.857G>A (p.Arg286Gln) rs922025345
NM_022041.4(GAN):c.875T>C (p.Met292Thr)
NM_022041.4(GAN):c.896A>C (p.Tyr299Ser) rs1254823893
NM_022041.4(GAN):c.904A>G (p.Asn302Asp) rs201937723
NM_022041.4(GAN):c.922G>A (p.Glu308Lys) rs1192845121
NM_022041.4(GAN):c.926T>G (p.Leu309Arg) rs1597403384
NM_022041.4(GAN):c.944C>G (p.Pro315Arg)
NM_022041.4(GAN):c.956A>G (p.His319Arg)
NM_022041.4(GAN):c.967T>C (p.Ser323Pro) rs1910545724
NM_022041.4(GAN):c.970G>T (p.Ala324Ser) rs1910545878
NM_022041.4(GAN):c.973+4C>G rs189406050
NM_022041.4(GAN):c.973G>A (p.Glu325Lys) rs1597403411
NM_022041.4(GAN):c.974-8C>A rs1463640637
NM_022041.4(GAN):c.976G>C (p.Gly326Arg) rs773294836
NM_022041.4(GAN):c.988G>T (p.Val330Leu) rs1910708136
NM_022041.4(GAN):c.994G>A (p.Gly332Arg) rs1567494825
NM_022041.4(GAN):c.998G>A (p.Gly333Asp)

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