ClinVar Miner

List of variants reported as uncertain significance for FG syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val) rs200820997 0.00017
NM_005120.3(MED12):c.4253+4G>A rs750162341 0.00005
NM_005120.3(MED12):c.1744+4C>T rs780750721 0.00004
NM_005120.3(MED12):c.3691+4C>T rs373381746 0.00004
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln) rs1196582695 0.00004
NM_005120.3(MED12):c.5966G>A (p.Arg1989His) rs1569482448 0.00004
NM_005120.3(MED12):c.1619G>A (p.Arg540His) rs774363039 0.00003
NM_005120.3(MED12):c.448A>G (p.Thr150Ala) rs758980420 0.00003
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro) rs755793630 0.00003
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp) rs1268612180 0.00002
NM_005120.3(MED12):c.2227-4G>A rs751157238 0.00002
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704 0.00002
NM_005120.3(MED12):c.3693G>T (p.Gly1231=) rs965896553 0.00002
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168 0.00002
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg) rs774937112 0.00002
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291 0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val) rs1294140756 0.00002
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873 0.00002
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg) rs2092345351 0.00002
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser) rs1602295395 0.00001
NM_005120.3(MED12):c.1253G>A (p.Arg418His) rs1431487428 0.00001
NM_005120.3(MED12):c.1298A>G (p.Gln433Arg) rs1170167377 0.00001
NM_005120.3(MED12):c.1746G>A (p.Thr582=) rs773240125 0.00001
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln) rs1275427306 0.00001
NM_005120.3(MED12):c.2129T>C (p.Val710Ala) rs1187273369 0.00001
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser) rs772484830 0.00001
NM_005120.3(MED12):c.2305C>A (p.His769Asn) rs755014778 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2341G>A (p.Val781Ile) rs2092300526 0.00001
NM_005120.3(MED12):c.2351G>A (p.Arg784His) rs777238737 0.00001
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn) rs1469572055 0.00001
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr) rs1317457286 0.00001
NM_005120.3(MED12):c.3658G>A (p.Val1220Met) rs1236099919 0.00001
NM_005120.3(MED12):c.3692-7A>G rs1014804538 0.00001
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp) rs1350628654 0.00001
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu) rs757845624 0.00001
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 0.00001
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val) rs771349148 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005120.3(MED12):c.4617+3G>A rs748647968 0.00001
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu) rs151316557 0.00001
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu) rs1211195670 0.00001
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp) rs763233945 0.00001
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys) rs2092332758 0.00001
NM_005120.3(MED12):c.5952T>C (p.Leu1984=) rs2092336597 0.00001
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys) rs1324299187 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005120.3(MED12):c.6416G>A (p.Arg2139His) rs1262235402 0.00001
NM_005120.3(MED12):c.671A>G (p.His224Arg) rs1459490134 0.00001
NM_005120.3(MED12):c.707C>T (p.Thr236Ile) rs1278481602 0.00001
NM_005120.3(MED12):c.76C>G (p.Pro26Ala) rs776154055 0.00001
NM_005120.3(MED12):c.817C>T (p.Leu273Phe) rs1219519252 0.00001
NC_000023.11:g.71124975GTT[1]
NC_000023.11:g.71141229GCA[3]
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3] rs773480549
NM_005120.2(MED12):c.6273_6278dup rs748394417
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.2(MED12):c.6300_6329del rs773480549
NM_005120.3(MED12):c.100-10C>G
NM_005120.3(MED12):c.100-11T>G
NM_005120.3(MED12):c.100-15G>T
NM_005120.3(MED12):c.100-15_100-14delinsTT
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser)
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)
NM_005120.3(MED12):c.106C>A (p.Leu36Met) rs2147769903
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr) rs2147780559
NM_005120.3(MED12):c.1101+3A>G
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile)
NM_005120.3(MED12):c.1131G>A (p.Leu377=) rs755897379
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr)
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)
NM_005120.3(MED12):c.1249G>A (p.Val417Ile) rs2147783166
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys) rs2147783217
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro)
NM_005120.3(MED12):c.1300G>C (p.Ala434Pro)
NM_005120.3(MED12):c.1312C>T (p.Arg438Cys)
NM_005120.3(MED12):c.1328A>G (p.Lys443Arg) rs2092292301
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) rs2092292878
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
NM_005120.3(MED12):c.1409G>A (p.Arg470His)
NM_005120.3(MED12):c.1432G>A (p.Asp478Asn) rs2092293014
NM_005120.3(MED12):c.1434C>G (p.Asp478Glu)
NM_005120.3(MED12):c.1438C>G (p.Leu480Val)
NM_005120.3(MED12):c.1448G>A (p.Arg483Gln)
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly) rs1289442309
NM_005120.3(MED12):c.1612G>T (p.Ala538Ser)
NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr)
NM_005120.3(MED12):c.1633G>C (p.Glu545Gln) rs2147787733
NM_005120.3(MED12):c.1636G>C (p.Ala546Pro)
NM_005120.3(MED12):c.1639G>T (p.Ala547Ser)
NM_005120.3(MED12):c.1640C>T (p.Ala547Val)
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr) rs863223709
NM_005120.3(MED12):c.1666G>A (p.Gly556Ser) rs2092295382
NM_005120.3(MED12):c.1704T>A (p.Asp568Glu)
NM_005120.3(MED12):c.1744+5G>A rs368353373
NM_005120.3(MED12):c.1744+6G>A
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp) rs2147789356
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln)
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu)
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu) rs375897167
NM_005120.3(MED12):c.1839G>A (p.Met613Ile)
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)
NM_005120.3(MED12):c.184G>A (p.Val62Ile) rs1039763693
NM_005120.3(MED12):c.1889G>T (p.Gly630Val)
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr)
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr) rs950787066
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly) rs1569481250
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro) rs2147790051
NM_005120.3(MED12):c.1975-16T>C
NM_005120.3(MED12):c.1975-9T>C
NM_005120.3(MED12):c.2009C>A (p.Pro670His)
NM_005120.3(MED12):c.2035A>G (p.Met679Val)
NM_005120.3(MED12):c.205-11T>G
NM_005120.3(MED12):c.205-3C>T
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala) rs878854752
NM_005120.3(MED12):c.2082G>A (p.Glu694=)
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)
NM_005120.3(MED12):c.216C>T (p.Asn72=)
NM_005120.3(MED12):c.2194G>T (p.Val732Leu)
NM_005120.3(MED12):c.2199G>A (p.Gln733=)
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg)
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr) rs2147792986
NM_005120.3(MED12):c.2302C>T (p.Arg768Cys)
NM_005120.3(MED12):c.2303G>A (p.Arg768His)
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys) rs2147793341
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
NM_005120.3(MED12):c.2371+4G>C
NM_005120.3(MED12):c.2372-15T>A
NM_005120.3(MED12):c.2372-17_2372-6del
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser) rs1602297729
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu) rs2092301217
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)
NM_005120.3(MED12):c.2422+11G>A
NM_005120.3(MED12):c.2422+6T>G rs1569481413
NM_005120.3(MED12):c.244C>G (p.Arg82Gly)
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln) rs1192740859
NM_005120.3(MED12):c.245G>A (p.Arg82His)
NM_005120.3(MED12):c.2467T>G (p.Phe823Val)
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser)
NM_005120.3(MED12):c.2529G>C (p.Gln843His) rs2147795833
NM_005120.3(MED12):c.2532C>G (p.Val844=)
NM_005120.3(MED12):c.2534C>T (p.Thr845Met)
NM_005120.3(MED12):c.2542-4T>G rs2147796325
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln) rs2092303365
NM_005120.3(MED12):c.2559G>A (p.Leu853=) rs2147796383
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu)
NM_005120.3(MED12):c.267T>C (p.Thr89=)
NM_005120.3(MED12):c.2685+6G>A rs2147796689
NM_005120.3(MED12):c.272G>A (p.Arg91His) rs1057524478
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)
NM_005120.3(MED12):c.281C>T (p.Pro94Leu) rs1602293842
NM_005120.3(MED12):c.2850G>T (p.Gly950=)
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe) rs2147799414
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr)
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
NM_005120.3(MED12):c.2982-14C>T
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro)
NM_005120.3(MED12):c.299A>T (p.Asp100Val)
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met) rs753751305
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala) rs2147800946
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser) rs2147801044
NM_005120.3(MED12):c.3209+4T>C
NM_005120.3(MED12):c.3209+6G>A
NM_005120.3(MED12):c.3209+7G>T rs2147801168
NM_005120.3(MED12):c.320C>T (p.Ala107Val) rs2092284960
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val) rs2092308336
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala) rs2147802401
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)
NM_005120.3(MED12):c.3354+6A>C
NM_005120.3(MED12):c.33C>A (p.His11Gln)
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp) rs1389138246
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln) rs2147804813
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys)
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg) rs2147804938
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.3(MED12):c.3598C>T (p.Arg1200Cys)
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val) rs2092311035
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val)
NM_005120.3(MED12):c.3641G>A (p.Arg1214His) rs2092311084
NM_005120.3(MED12):c.3691+9G>A
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu)
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg) rs1459632977
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del) rs1602300077
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser) rs776373565
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val) rs2147807429
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)
NM_005120.3(MED12):c.37C>T (p.Pro13Ser)
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp)
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly) rs2147807641
NM_005120.3(MED12):c.3868-11A>G
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr)
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) rs2092313149
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys) rs901783069
NM_005120.3(MED12):c.3956G>A (p.Arg1319His) rs1421325265
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg) rs797045699
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser)
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp) rs2147808786
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp)
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr)
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn) rs2147813483
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr) rs2147813494
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg) rs2092319173
NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu)
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro) rs2147814288
NM_005120.3(MED12):c.4325A>G (p.His1442Arg)
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val)
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu) rs2147814559
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys)
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val)
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys) rs759105512
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys) rs868164882
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
NM_005120.3(MED12):c.454C>T (p.Pro152Ser) rs2147774389
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp) rs2092323072
NM_005120.3(MED12):c.4638G>A (p.Thr1546=) rs980389482
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu)
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala) rs1375497967
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile)
NM_005120.3(MED12):c.466G>A (p.Ala156Thr) rs2147774436
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu) rs767396596
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser) rs2147822394
NM_005120.3(MED12):c.478A>G (p.Ile160Val)
NM_005120.3(MED12):c.4816A>G (p.Met1606Val)
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln) rs2092328967
NM_005120.3(MED12):c.4979C>G (p.Thr1660Ser)
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn) rs779481901
NM_005120.3(MED12):c.503C>T (p.Ala168Val) rs1602294043
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys) rs1569482278
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu) rs2147826599
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln) rs748064846
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala)
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
NM_005120.3(MED12):c.5297C>A (p.Pro1766His)
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)
NM_005120.3(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)
NM_005120.3(MED12):c.535C>T (p.His179Tyr)
NM_005120.3(MED12):c.536A>G (p.His179Arg) rs2092285751
NM_005120.3(MED12):c.5400+4A>G
NM_005120.3(MED12):c.5400+6C>A
NM_005120.3(MED12):c.5401-3C>A rs1180673067
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu) rs2147827854
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu) rs368093012
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp) rs372271659
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln) rs1432487094
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)
NM_005120.3(MED12):c.5440G>A (p.Val1814Met)
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys)
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr) rs2092334189
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)
NM_005120.3(MED12):c.5552-3C>T
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile)
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys)
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu)
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys) rs2147829625
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu) rs767294730
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg) rs2147829667
NM_005120.3(MED12):c.5748+11T>G
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
NM_005120.3(MED12):c.5761A>T (p.Met1921Leu)
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro) rs2147830190
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr)
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser)
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) rs2147830593
NM_005120.3(MED12):c.5849A>T (p.His1950Leu) rs2092336344
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr) rs2092336411
NM_005120.3(MED12):c.5897C>A (p.Pro1966His) rs2147830796
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.5923A>G (p.Ser1975Gly)
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys) rs1009330609
NM_005120.3(MED12):c.5970C>A (p.His1990Gln)
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro)
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser) rs2092336678
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn)
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu) rs2147831227
NM_005120.3(MED12):c.6022C>A (p.His2008Asn) rs2147831234
NM_005120.3(MED12):c.6023A>G (p.His2008Arg)
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala) rs777453338
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)
NM_005120.3(MED12):c.6045-7T>G
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser)
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala) rs2092344746
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr) rs1602306821
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val)
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del) rs769857818
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del) rs769857818
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup) rs769857818
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del)
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del) rs773709991
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del) rs753370104
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup) rs2147839452
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del) rs754533796
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln) rs1602306967
NM_005120.3(MED12):c.6239_6247dup (p.Gln2082_Gln2083insArgGlnGln)
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_Gln2086dup) rs786200971
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln) rs1001050248
NM_005120.3(MED12):c.6267+3A>C rs2092345559
NM_005120.3(MED12):c.6268-3T>C
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)
NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln)
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup) rs1425637621
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup) rs2092346839
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.6309_6323dup (p.Gln2115_His2116insGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup) rs2147841816
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)
NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln)
NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del)
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
NM_005120.3(MED12):c.6336_6362dup (p.Gln2123_Ala2124insGlnHisGlnGlnGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6360G>C (p.Gln2120His)
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)
NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg)
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
NM_005120.3(MED12):c.6408+16C>T rs1057522248
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)
NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys)
NM_005120.3(MED12):c.6490+6C>T rs2147845031
NM_005120.3(MED12):c.6506C>A (p.Pro2169His)
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)
NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile)
NM_005120.3(MED12):c.658G>C (p.Gly220Arg) rs2147777706
NM_005120.3(MED12):c.66C>A (p.Pro22=) rs2092281557
NM_005120.3(MED12):c.691C>T (p.Arg231Trp)
NM_005120.3(MED12):c.701A>G (p.Asp234Gly)
NM_005120.3(MED12):c.706A>G (p.Thr236Ala) rs2147777907
NM_005120.3(MED12):c.70G>A (p.Val24Ile) rs2092281566
NM_005120.3(MED12):c.715C>G (p.Leu239Val)
NM_005120.3(MED12):c.733C>A (p.Gln245Lys)
NM_005120.3(MED12):c.735+13G>T
NM_005120.3(MED12):c.736-3T>C rs2092288995
NM_005120.3(MED12):c.846+3A>T
NM_005120.3(MED12):c.85C>A (p.Pro29Thr) rs2147767136
NM_005120.3(MED12):c.883C>T (p.Arg295Cys)
NM_005120.3(MED12):c.884G>A (p.Arg295His)
NM_005120.3(MED12):c.89A>G (p.Lys30Arg) rs2147767167
NM_005120.3(MED12):c.907C>T (p.Arg303Trp)
NM_005120.3(MED12):c.908G>A (p.Arg303Gln)
NM_005120.3(MED12):c.919C>G (p.Leu307Val)
NM_005120.3(MED12):c.934G>A (p.Val312Met) rs377403264
NM_005120.3(MED12):c.938G>A (p.Ser313Asn) rs1317622485
NM_005120.3(MED12):c.941G>A (p.Ser314Asn)
NM_005120.3(MED12):c.959T>C (p.Ile320Thr)
NM_005120.3(MED12):c.965C>T (p.Ala322Val) rs2092289745
NM_005120.3(MED12):c.968A>C (p.Gln323Pro)
NM_005120.3(MED12):c.988A>C (p.Thr330Pro) rs2147780054
NM_005120.3(MED12):c.99G>A (p.Glu33=)

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