ClinVar Miner

List of variants in gene MET reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000245.4(MET):c.3521A>G (p.His1174Arg) rs372830789 0.00041
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037 0.00036
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00029
NM_000245.4(MET):c.2198C>T (p.Thr733Ile) rs201271860 0.00027
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000245.4(MET):c.665C>T (p.Thr222Met) rs200776610 0.00018
NM_000245.4(MET):c.4091C>T (p.Pro1364Leu) rs752791731 0.00017
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00015
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000245.4(MET):c.1975A>T (p.Ile659Leu) rs753958204 0.00014
NM_000245.4(MET):c.2548A>G (p.Ile850Val) rs200524064 0.00011
NM_000245.4(MET):c.2684C>T (p.Thr895Met) rs199502137 0.00011
NM_000245.4(MET):c.289C>G (p.Pro97Ala) rs199736573 0.00011
NM_000245.4(MET):c.2110A>G (p.Asn704Asp) rs373030463 0.00010
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.2378G>A (p.Arg793His) rs199643166 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000245.4(MET):c.2543T>C (p.Val848Ala) rs587782205 0.00008
NM_000245.4(MET):c.280G>C (p.Asp94His) rs899151863 0.00008
NM_000245.4(MET):c.3497G>A (p.Arg1166Gln) rs199763277 0.00008
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000245.4(MET):c.22G>A (p.Ala8Thr) rs758564871 0.00006
NM_000245.4(MET):c.3811G>A (p.Val1271Met) rs751186512 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000245.4(MET):c.100G>A (p.Glu34Lys) rs764246939 0.00005
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00005
NM_000245.4(MET):c.105G>C (p.Met35Ile) rs376244358 0.00005
NM_000245.4(MET):c.1063G>A (p.Glu355Lys) rs561295443 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000245.4(MET):c.3217C>T (p.Pro1073Ser) rs398123569 0.00005
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2342A>C (p.Glu781Ala) rs771231484 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro) rs771328219 0.00004
NM_000245.4(MET):c.428G>A (p.Arg143Gln) rs35469582 0.00004
NM_000245.4(MET):c.510C>G (p.Ser170Arg) rs587778442 0.00004
NM_000245.4(MET):c.1235G>A (p.Arg412His) rs371463233 0.00003
NM_000245.4(MET):c.1238G>A (p.Arg413His) rs375391602 0.00003
NM_000245.4(MET):c.1279G>A (p.Val427Ile) rs376364468 0.00003
NM_000245.4(MET):c.1291A>G (p.Met431Val) rs766929091 0.00003
NM_000245.4(MET):c.1408T>A (p.Ser470Thr) rs1484724510 0.00003
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.1643C>T (p.Ser548Leu) rs767715328 0.00003
NM_000245.4(MET):c.1972G>A (p.Val658Ile) rs587778446 0.00003
NM_000245.4(MET):c.2325G>T (p.Met775Ile) rs748086754 0.00003
NM_000245.4(MET):c.2555T>A (p.Met852Lys) rs369758288 0.00003
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00003
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) rs768678989 0.00003
NM_000245.4(MET):c.3091A>G (p.Met1031Val) rs45564937 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00003
NM_000245.4(MET):c.37G>A (p.Val13Met) rs781777052 0.00003
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00003
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00003
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00003
NM_000245.4(MET):c.535G>A (p.Ala179Thr) rs753697730 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.1382G>A (p.Arg461His) rs544274181 0.00002
NM_000245.4(MET):c.1532C>T (p.Thr511Met) rs371124109 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000245.4(MET):c.1660G>A (p.Gly554Arg) rs200218511 0.00002
NM_000245.4(MET):c.1853C>T (p.Thr618Met) rs753407699 0.00002
NM_000245.4(MET):c.1906A>G (p.Met636Val) rs761183186 0.00002
NM_000245.4(MET):c.2215C>T (p.Arg739Cys) rs45587940 0.00002
NM_000245.4(MET):c.2216G>A (p.Arg739His) rs45553236 0.00002
NM_000245.4(MET):c.2344G>A (p.Ala782Thr) rs1262601648 0.00002
NM_000245.4(MET):c.2455G>A (p.Ala819Thr) rs786203672 0.00002
NM_000245.4(MET):c.2585G>C (p.Gly862Ala) rs1394626435 0.00002
NM_000245.4(MET):c.2693A>G (p.Asn898Ser) rs766430458 0.00002
NM_000245.4(MET):c.2787G>C (p.Gln929His) rs908653562 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3503T>C (p.Phe1168Ser) rs1423699789 0.00002
NM_000245.4(MET):c.3880G>A (p.Val1294Ile) rs1263785859 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln) rs752694306 0.00002
NM_000245.4(MET):c.623A>G (p.Asp208Gly) rs587782086 0.00002
NM_000245.4(MET):c.743A>T (p.Lys248Met) rs769181927 0.00002
NM_000245.4(MET):c.107A>G (p.Asn36Ser) rs1282716584 0.00001
NM_000245.4(MET):c.1099A>G (p.Ile367Val) rs774146015 0.00001
NM_000245.4(MET):c.1101C>A (p.Ile367=) rs747940150 0.00001
NM_000245.4(MET):c.1159C>T (p.Gln387Ter) rs757846126 0.00001
NM_000245.4(MET):c.1190G>A (p.Cys397Tyr) rs1018999843 0.00001
NM_000245.4(MET):c.1237C>T (p.Arg413Cys) rs201980687 0.00001
NM_000245.4(MET):c.1242T>A (p.Asp414Glu) rs1230741853 0.00001
NM_000245.4(MET):c.1286T>C (p.Leu429Ser) rs761043122 0.00001
NM_000245.4(MET):c.1406G>A (p.Arg469Gln) rs752842662 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.146A>G (p.Glu49Gly) rs370499060 0.00001
NM_000245.4(MET):c.1472T>C (p.Ile491Thr) rs561588772 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831 0.00001
NM_000245.4(MET):c.1490A>G (p.Asn497Ser) rs753713629 0.00001
NM_000245.4(MET):c.1625A>G (p.His542Arg) rs775183859 0.00001
NM_000245.4(MET):c.1648G>A (p.Glu550Lys) rs561347675 0.00001
NM_000245.4(MET):c.1663A>G (p.Thr555Ala) rs370883654 0.00001
NM_000245.4(MET):c.1697A>G (p.Tyr566Cys) rs1445578353 0.00001
NM_000245.4(MET):c.173A>G (p.His58Arg) rs374578653 0.00001
NM_000245.4(MET):c.180T>A (p.His60Gln) rs745740862 0.00001
NM_000245.4(MET):c.1898A>G (p.His633Arg) rs45586239 0.00001
NM_000245.4(MET):c.1904A>G (p.Asn635Ser) rs773826297 0.00001
NM_000245.4(MET):c.1907T>A (p.Met636Lys) rs775011117 0.00001
NM_000245.4(MET):c.1937C>A (p.Thr646Lys) rs751307227 0.00001
NM_000245.4(MET):c.199A>G (p.Thr67Ala) rs202047059 0.00001
NM_000245.4(MET):c.2076T>G (p.Ile692Met) rs752740791 0.00001
NM_000245.4(MET):c.2118T>C (p.Ile706=) rs958023403 0.00001
NM_000245.4(MET):c.2192G>A (p.Arg731Gln) rs45446492 0.00001
NM_000245.4(MET):c.2260A>G (p.Ile754Val) rs1060503539 0.00001
NM_000245.4(MET):c.2265-23A>G rs750004615 0.00001
NM_000245.4(MET):c.2267G>A (p.Gly756Asp) rs1794309303 0.00001
NM_000245.4(MET):c.2347G>C (p.Gly783Arg) rs879254334 0.00001
NM_000245.4(MET):c.2357T>C (p.Phe786Ser) rs1794313226 0.00001
NM_000245.4(MET):c.2362G>A (p.Val788Met) rs1489302008 0.00001
NM_000245.4(MET):c.2383A>G (p.Asn795Asp) rs200633053 0.00001
NM_000245.4(MET):c.2435A>C (p.Gln812Pro) rs777833095 0.00001
NM_000245.4(MET):c.2441C>T (p.Pro814Leu) rs781452657 0.00001
NM_000245.4(MET):c.2493T>G (p.Phe831Leu) rs749730267 0.00001
NM_000245.4(MET):c.2501T>C (p.Ile834Thr) rs1215872095 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.2554A>G (p.Met852Val) rs762863861 0.00001
NM_000245.4(MET):c.2677T>A (p.Leu893Ile) rs376104371 0.00001
NM_000245.4(MET):c.2716G>A (p.Glu906Lys) rs778115147 0.00001
NM_000245.4(MET):c.2795C>T (p.Thr932Ile) rs758486777 0.00001
NM_000245.4(MET):c.2802G>C (p.Leu934Phe) rs1361155132 0.00001
NM_000245.4(MET):c.280G>T (p.Asp94Tyr) rs899151863 0.00001
NM_000245.4(MET):c.281A>G (p.Asp94Gly) rs368328347 0.00001
NM_000245.4(MET):c.2851T>C (p.Phe951Leu) rs756670611 0.00001
NM_000245.4(MET):c.2974A>G (p.Thr992Ala) rs774433287 0.00001
NM_000245.4(MET):c.3030T>A (p.Asp1010Glu) rs565938550 0.00001
NM_000245.4(MET):c.305G>A (p.Ser102Asn) rs779897466 0.00001
NM_000245.4(MET):c.3095C>T (p.Ser1032Phe) rs1201989602 0.00001
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile) rs758440368 0.00001
NM_000245.4(MET):c.3133C>A (p.Pro1045Thr) rs1794949971 0.00001
NM_000245.4(MET):c.319T>G (p.Leu107Val) rs1791474714 0.00001
NM_000245.4(MET):c.3200A>G (p.Gln1067Arg) rs1554398900 0.00001
NM_000245.4(MET):c.3208G>A (p.Val1070Met) rs760285693 0.00001
NM_000245.4(MET):c.3242A>G (p.Asn1081Ser) rs764213589 0.00001
NM_000245.4(MET):c.3404G>A (p.Ser1135Asn) rs1795069423 0.00001
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln) rs761808213 0.00001
NM_000245.4(MET):c.34C>T (p.Leu12Phe) rs764455004 0.00001
NM_000245.4(MET):c.3508C>T (p.Arg1170Ter) rs200754673 0.00001
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) rs369838973 0.00001
NM_000245.4(MET):c.3517A>G (p.Thr1173Ala) rs779636840 0.00001
NM_000245.4(MET):c.3539A>T (p.Asp1180Val) rs751961995 0.00001
NM_000245.4(MET):c.356C>T (p.Ala119Val) rs904162290 0.00001
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr) rs970206545 0.00001
NM_000245.4(MET):c.3874A>G (p.Ile1292Val) rs1485105398 0.00001
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser) rs779121848 0.00001
NM_000245.4(MET):c.3950T>A (p.Leu1317Gln) rs1159812687 0.00001
NM_000245.4(MET):c.3980G>A (p.Arg1327His) rs1443741792 0.00001
NM_000245.4(MET):c.3997C>G (p.Leu1333Val) rs758738756 0.00001
NM_000245.4(MET):c.400G>A (p.Gly134Ser) rs1584876675 0.00001
NM_000245.4(MET):c.4042C>A (p.His1348Asn) rs773772398 0.00001
NM_000245.4(MET):c.4057A>G (p.Asn1353Asp) rs374383028 0.00001
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr) rs761522694 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr) rs764303128 0.00001
NM_000245.4(MET):c.433G>A (p.Val145Ile) rs1410705895 0.00001
NM_000245.4(MET):c.452C>T (p.Thr151Ile) rs1584876832 0.00001
NM_000245.4(MET):c.462A>G (p.Ile154Met) rs771146873 0.00001
NM_000245.4(MET):c.527T>C (p.Val176Ala) rs1343674412 0.00001
NM_000245.4(MET):c.546C>A (p.Ala182=) rs570036369 0.00001
NM_000245.4(MET):c.572G>A (p.Arg191Gln) rs879254342 0.00001
NM_000245.4(MET):c.599C>A (p.Thr200Asn) rs786202727 0.00001
NM_000245.4(MET):c.617T>C (p.Phe206Ser) rs746295363 0.00001
NM_000245.4(MET):c.62G>A (p.Arg21Lys) rs964356368 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.716C>T (p.Pro239Leu) rs45551737 0.00001
NM_000245.4(MET):c.808G>C (p.Asp270His) rs1060503542 0.00001
NM_000245.4(MET):c.80A>G (p.Lys27Arg) rs555920594 0.00001
NM_000245.4(MET):c.821T>C (p.Phe274Ser) rs758569834 0.00001
NM_000245.4(MET):c.840G>T (p.Arg280Ser) rs1207381066 0.00001
NM_000245.4(MET):c.974C>T (p.Pro325Leu) rs780802614 0.00001
NM_000245.4(MET):c.988G>T (p.Ala330Ser) rs1791512125 0.00001
NM_000245.4(MET):c.-3A>T rs963663507
NM_000245.4(MET):c.1063G>C (p.Glu355Gln) rs561295443
NM_000245.4(MET):c.1084A>C (p.Met362Leu) rs1791519202
NM_000245.4(MET):c.1100del (p.Ile367fs) rs2116605487
NM_000245.4(MET):c.1125C>G (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.114T>A (p.Asn38Lys) rs863224693
NM_000245.4(MET):c.1187A>C (p.His396Pro) rs2116607543
NM_000245.4(MET):c.119A>T (p.Lys40Met) rs1210616219
NM_000245.4(MET):c.1227T>G (p.Cys409Trp) rs2116779815
NM_000245.4(MET):c.1261A>G (p.Thr421Ala) rs2116780759
NM_000245.4(MET):c.1309G>A (p.Val437Ile) rs1584914185
NM_000245.4(MET):c.1354A>G (p.Ile452Val) rs1793018926
NM_000245.4(MET):c.1363C>A (p.Leu455Ile) rs780077898
NM_000245.4(MET):c.1381C>G (p.Arg461Gly) rs1584914359
NM_000245.4(MET):c.1391A>G (p.Gln464Arg) rs1793022221
NM_000245.4(MET):c.1405C>T (p.Arg469Ter) rs2116825789
NM_000245.4(MET):c.1411G>A (p.Gly471Arg) rs1207715563
NM_000245.4(MET):c.1421C>T (p.Thr474Ile) rs1554390902
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.143C>T (p.Ala48Val) rs80256822
NM_000245.4(MET):c.146A>C (p.Glu49Ala) rs370499060
NM_000245.4(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_000245.4(MET):c.1547A>G (p.Asn516Ser) rs1793418893
NM_000245.4(MET):c.1570C>G (p.Gln524Glu) rs2116834835
NM_000245.4(MET):c.1598C>T (p.Pro533Leu) rs2116835610
NM_000245.4(MET):c.1600C>T (p.Pro534Ser) rs200283364
NM_000245.4(MET):c.16G>T (p.Val6Leu) rs1395233386
NM_000245.4(MET):c.175G>A (p.Glu59Lys) rs2116582173
NM_000245.4(MET):c.1780A>G (p.Asn594Asp) rs1794141895
NM_000245.4(MET):c.1801A>G (p.Thr601Ala) rs1216005099
NM_000245.4(MET):c.1817G>T (p.Gly606Val) rs2116910408
NM_000245.4(MET):c.1821T>A (p.Asn607Lys) rs762389147
NM_000245.4(MET):c.1827C>A (p.Ser609Arg) rs2116910568
NM_000245.4(MET):c.1848_1849delinsTT (p.Glu616_Ser617delinsAspCys) rs1794145066
NM_000245.4(MET):c.1890G>T (p.Met630Ile) rs756209410
NM_000245.4(MET):c.1896G>T (p.Lys632Asn) rs749484691
NM_000245.4(MET):c.1991C>T (p.Pro664Leu) rs1367341975
NM_000245.4(MET):c.1999G>A (p.Gly667Ser) rs1164546569
NM_000245.4(MET):c.2014G>A (p.Gly672Ser) rs746388251
NM_000245.4(MET):c.2016C>T (p.Gly672=) rs768149852
NM_000245.4(MET):c.2059T>C (p.Ser687Pro) rs1562922167
NM_000245.4(MET):c.2134C>G (p.Pro712Ala) rs1253894496
NM_000245.4(MET):c.2176A>G (p.Ile726Val) rs1794275336
NM_000245.4(MET):c.2203A>G (p.Ile735Val) rs1398648043
NM_000245.4(MET):c.2263A>C (p.Ser755Arg) rs981401332
NM_000245.4(MET):c.2265-10G>T rs1355716761
NM_000245.4(MET):c.2265-31A>G rs370237186
NM_000245.4(MET):c.2265-41G>A rs1554395868
NM_000245.4(MET):c.2265-42del rs1554395864
NM_000245.4(MET):c.2265-49G>C rs1196543273
NM_000245.4(MET):c.2265-50T>C
NM_000245.4(MET):c.2284G>C (p.Gly762Arg) rs1794310272
NM_000245.4(MET):c.2293A>G (p.Lys765Glu) rs1554395889
NM_000245.4(MET):c.2359A>T (p.Thr787Ser)
NM_000245.4(MET):c.2363T>C (p.Val788Ala) rs786204142
NM_000245.4(MET):c.2365-11T>A rs1367439751
NM_000245.4(MET):c.2375A>C (p.His792Pro) rs980467681
NM_000245.4(MET):c.2434C>G (p.Gln812Glu) rs398123568
NM_000245.4(MET):c.2444T>C (p.Leu815Pro) rs1554396571
NM_000245.4(MET):c.2499C>A (p.Leu833=) rs866072933
NM_000245.4(MET):c.2500A>G (p.Ile834Val) rs2116956205
NM_000245.4(MET):c.2509C>T (p.His837Tyr) rs1584947043
NM_000245.4(MET):c.2555T>C (p.Met852Thr) rs369758288
NM_000245.4(MET):c.2566A>T (p.Asn856Tyr)
NM_000245.4(MET):c.2568T>G (p.Asn856Lys) rs118057172
NM_000245.4(MET):c.2581A>G (p.Lys861Glu)
NM_000245.4(MET):c.2599C>T (p.Pro867Ser)
NM_000245.4(MET):c.259G>T (p.Gly87Trp) rs2116584163
NM_000245.4(MET):c.2626A>C (p.Lys876Gln) rs368891381
NM_000245.4(MET):c.2657_2658del (p.His886fs)
NM_000245.4(MET):c.2658C>A (p.His886Gln) rs748950533
NM_000245.4(MET):c.274C>G (p.His92Asp) rs1375872823
NM_000245.4(MET):c.2797G>A (p.Gly933Arg)
NM_000245.4(MET):c.2806G>T (p.Ala936Ser) rs1794834628
NM_000245.4(MET):c.280G>A (p.Asp94Asn) rs899151863
NM_000245.4(MET):c.2827A>G (p.Thr943Ala) rs1794835436
NM_000245.4(MET):c.2848G>A (p.Gly950Arg)
NM_000245.4(MET):c.2906T>C (p.Val969Ala) rs2116996037
NM_000245.4(MET):c.2965G>A (p.Val989Ile) rs1442896663
NM_000245.4(MET):c.2970C>T (p.Ser990=) rs544081614
NM_000245.4(MET):c.2983A>G (p.Met995Val) rs1794849768
NM_000245.4(MET):c.2995G>A (p.Glu999Lys) rs1404824650
NM_000245.4(MET):c.3014C>A (p.Ala1005Asp) rs777214043
NM_000245.4(MET):c.3037C>T (p.Pro1013Ser)
NM_000245.4(MET):c.3051G>C (p.Gln1017His) rs2117029691
NM_000245.4(MET):c.3055G>C (p.Gly1019Arg) rs950642030
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3070G>A (p.Val1024Met) rs1584957724
NM_000245.4(MET):c.3098C>T (p.Pro1033Leu) rs2117030380
NM_000245.4(MET):c.3128C>A (p.Ser1043Tyr) rs1267419620
NM_000245.4(MET):c.3130A>T (p.Ser1044Cys) rs1357266763
NM_000245.4(MET):c.3163C>G (p.Leu1055Val) rs1060503534
NM_000245.4(MET):c.3205G>A (p.Val1069Ile)
NM_000245.4(MET):c.3293T>C (p.Leu1098Ser) rs2485816106
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly) rs780431412
NM_000245.4(MET):c.3301G>A (p.Asp1101Asn) rs749678495
NM_000245.4(MET):c.3321T>C (p.Cys1107=) rs1584959989
NM_000245.4(MET):c.3325G>A (p.Val1109Met) rs2117040332
NM_000245.4(MET):c.3343A>C (p.Ile1115Leu) rs2117044727
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.3365C>T (p.Ser1122Phe) rs1180415202
NM_000245.4(MET):c.346A>G (p.Ile116Val) rs1554378434
NM_000245.4(MET):c.3477C>G (p.Tyr1159Ter) rs372238373
NM_000245.4(MET):c.3478A>G (p.Met1160Val) rs1554399597
NM_000245.4(MET):c.3496C>T (p.Arg1166Ter) rs1795073205
NM_000245.4(MET):c.3505A>T (p.Ile1169Phe) rs752109953
NM_000245.4(MET):c.3523-10T>C rs2117059286
NM_000245.4(MET):c.3565G>A (p.Ala1189Thr) rs1348453406
NM_000245.4(MET):c.361G>A (p.Val121Ile) rs1357453854
NM_000245.4(MET):c.367G>A (p.Asp123Asn) rs760106468
NM_000245.4(MET):c.3716A>G (p.Asn1239Ser) rs1362733840
NM_000245.4(MET):c.3781A>G (p.Thr1261Ala)
NM_000245.4(MET):c.3784A>G (p.Thr1262Ala) rs2485836649
NM_000245.4(MET):c.3793G>A (p.Asp1265Asn) rs45532942
NM_000245.4(MET):c.3797T>A (p.Val1266Glu) rs2117067730
NM_000245.4(MET):c.37G>T (p.Val13Leu) rs781777052
NM_000245.4(MET):c.3811G>T (p.Val1271Leu) rs751186512
NM_000245.4(MET):c.3818T>C (p.Leu1273Pro)
NM_000245.4(MET):c.381T>A (p.Asp127Glu) rs2116587402
NM_000245.4(MET):c.3859G>A (p.Val1287Ile) rs780102059
NM_000245.4(MET):c.3866C>T (p.Thr1289Ile) rs1584977952
NM_000245.4(MET):c.3908T>C (p.Leu1303Pro)
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000245.4(MET):c.3948G>T (p.Met1316Ile) rs1434248114
NM_000245.4(MET):c.4037G>A (p.Gly1346Glu) rs2117111902
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly) rs773898036
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4136T>G (p.Val1379Gly) rs2117113573
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala) rs1292389793
NM_000245.4(MET):c.4141A>T (p.Thr1381Ser) rs1292389793
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) rs200315561
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro) rs752694306
NM_000245.4(MET):c.4150G>C (p.Ala1384Pro) rs758486336
NM_000245.4(MET):c.451A>G (p.Thr151Ala) rs2116589147
NM_000245.4(MET):c.472G>T (p.Val158Phe) rs1227091238
NM_000245.4(MET):c.490C>T (p.Pro164Ser)
NM_000245.4(MET):c.493C>T (p.Gln165Ter) rs2116590270
NM_000245.4(MET):c.495G>C (p.Gln165His) rs1060503537
NM_000245.4(MET):c.497T>G (p.Ile166Arg) rs773830746
NM_000245.4(MET):c.538C>G (p.Leu180Val) rs1584877113
NM_000245.4(MET):c.541G>A (p.Gly181Arg) rs779040487
NM_000245.4(MET):c.554T>A (p.Leu185His) rs1791489495
NM_000245.4(MET):c.55G>C (p.Val19Leu) rs1486187704
NM_000245.4(MET):c.563T>G (p.Val188Gly)
NM_000245.4(MET):c.608CTT[1] (p.Ser204del) rs764811491
NM_000245.4(MET):c.610T>C (p.Ser204Pro) rs1791492133
NM_000245.4(MET):c.654G>T (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.713T>C (p.Leu238Ser) rs34349517
NM_000245.4(MET):c.724A>G (p.Arg242Gly) rs904275312
NM_000245.4(MET):c.774del (p.Phe258fs) rs1281772042
NM_000245.4(MET):c.818C>G (p.Thr273Ser) rs368144654
NM_000245.4(MET):c.835A>G (p.Ile279Val) rs2116599152
NM_000245.4(MET):c.866A>C (p.His289Pro) rs1584877845

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