ClinVar Miner

List of variants studied for Vici syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 305
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HGVS dbSNP
EPG5, 1-BP DUP, 5704T
NC_000018.9:g.(?_43432412)_(43547225_?)dup
NM_020964.2(EPG5):c.[1188delC;2598A>G]
NM_020964.2(EPG5):c.[1A>G;4108delC]
NM_020964.2(EPG5):c.[2461C>T;3582G>A]
NM_020964.2(EPG5):c.[2T>C;5792delT]
NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]
NM_020964.2(EPG5):c.[3152C>G;4230G>A]
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275
NM_020964.3(EPG5):c.1009-10_1009-9dup rs148293118
NM_020964.3(EPG5):c.1011T>G (p.Gly337=) rs187606757
NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys) rs148098259
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn) rs145177562
NM_020964.3(EPG5):c.1081C>T (p.Leu361=) rs777877311
NM_020964.3(EPG5):c.1148C>G (p.Ser383Cys) rs1431365834
NM_020964.3(EPG5):c.1189A>G (p.Ile397Val)
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.1252+5G>C rs375372125
NM_020964.3(EPG5):c.1253-1G>A rs1470797555
NM_020964.3(EPG5):c.1254G>A (p.Ala418=) rs368735317
NM_020964.3(EPG5):c.1254del (p.Ser419fs)
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123
NM_020964.3(EPG5):c.1293A>G (p.Gln431=)
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp)
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679
NM_020964.3(EPG5):c.1390-5T>C rs1555680767
NM_020964.3(EPG5):c.1391T>C (p.Val464Ala) rs572513821
NM_020964.3(EPG5):c.1395C>T (p.Ser465=) rs374133150
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030
NM_020964.3(EPG5):c.1431_1434CTTC[1] (p.Phe478_Leu479insTer) rs762639913
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe) rs200364337
NM_020964.3(EPG5):c.1461C>T (p.Pro487=) rs142675465
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
NM_020964.3(EPG5):c.1511A>C (p.His504Pro)
NM_020964.3(EPG5):c.151C>G (p.Leu51Val) rs188069373
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619
NM_020964.3(EPG5):c.1571+7G>A rs202014798
NM_020964.3(EPG5):c.1609G>A (p.Glu537Lys) rs183660877
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln)
NM_020964.3(EPG5):c.1625C>T (p.Ser542Phe)
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.1678-1G>A rs755928939
NM_020964.3(EPG5):c.167A>G (p.Lys56Arg) rs761554872
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998
NM_020964.3(EPG5):c.1702A>C (p.Ile568Leu) rs1302366422
NM_020964.3(EPG5):c.1749C>T (p.Pro583=) rs746257883
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113
NM_020964.3(EPG5):c.1830G>A (p.Met610Ile)
NM_020964.3(EPG5):c.1867C>A (p.Leu623Ile)
NM_020964.3(EPG5):c.18G>A (p.Lys6=) rs181345590
NM_020964.3(EPG5):c.1913A>C (p.Gln638Pro)
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
NM_020964.3(EPG5):c.1940T>G (p.Ile647Ser) rs770599313
NM_020964.3(EPG5):c.1944-3C>T rs376498905
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576
NM_020964.3(EPG5):c.2069G>A (p.Arg690Lys) rs1568173320
NM_020964.3(EPG5):c.2100-7C>T rs191189597
NM_020964.3(EPG5):c.2127G>T (p.Glu709Asp) rs950420567
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154
NM_020964.3(EPG5):c.2176C>T (p.Leu726Phe)
NM_020964.3(EPG5):c.2180T>C (p.Met727Thr)
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994
NM_020964.3(EPG5):c.2257+10C>T rs202068698
NM_020964.3(EPG5):c.2259C>T (p.Asp753=) rs142253896
NM_020964.3(EPG5):c.2332A>G (p.Thr778Ala)
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342
NM_020964.3(EPG5):c.2353dup (p.Ala785fs) rs1085308062
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530
NM_020964.3(EPG5):c.2395G>T (p.Val799Phe)
NM_020964.3(EPG5):c.2407T>C (p.Tyr803His) rs762353654
NM_020964.3(EPG5):c.2420A>C (p.Tyr807Ser) rs1436830345
NM_020964.3(EPG5):c.2443A>T (p.Thr815Ser) rs944929737
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.2618C>T (p.Ala873Val) rs201678945
NM_020964.3(EPG5):c.2702G>T (p.Trp901Leu)
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)
NM_020964.3(EPG5):c.2718+3A>G rs374002995
NM_020964.3(EPG5):c.2761T>C (p.Leu921=) rs376268597
NM_020964.3(EPG5):c.2812G>A (p.Gly938Arg) rs773907627
NM_020964.3(EPG5):c.2845T>C (p.Tyr949His) rs750349437
NM_020964.3(EPG5):c.2846A>T (p.Tyr949Phe)
NM_020964.3(EPG5):c.290C>T (p.Thr97Met)
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val) rs148777356
NM_020964.3(EPG5):c.291G>T (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.2956C>G (p.Pro986Ala) rs755139046
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile)
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606
NM_020964.3(EPG5):c.3002C>T (p.Thr1001Ile)
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met) rs890699630
NM_020964.3(EPG5):c.3034G>A (p.Ala1012Thr)
NM_020964.3(EPG5):c.3079A>G (p.Met1027Val) rs200114829
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) rs1483969601
NM_020964.3(EPG5):c.3113G>A (p.Cys1038Tyr)
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile) rs144908324
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998
NM_020964.3(EPG5):c.3206A>G (p.Tyr1069Cys)
NM_020964.3(EPG5):c.3235G>A (p.Glu1079Lys) rs199586840
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727
NM_020964.3(EPG5):c.3270C>A (p.His1090Gln)
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350
NM_020964.3(EPG5):c.328A>G (p.Arg110Gly) rs761327582
NM_020964.3(EPG5):c.3292G>A (p.Gly1098Ser) rs1599566046
NM_020964.3(EPG5):c.3313C>T (p.His1105Tyr) rs200305944
NM_020964.3(EPG5):c.3384G>A (p.Gln1128=)
NM_020964.3(EPG5):c.3385-4A>T rs150567949
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val) rs3744997
NM_020964.3(EPG5):c.33C>G (p.Ala11=) rs539082493
NM_020964.3(EPG5):c.3427G>A (p.Val1143Ile) rs771510931
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) rs9965714
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val) rs61744077
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352
NM_020964.3(EPG5):c.3498C>G (p.Leu1166=) rs771587084
NM_020964.3(EPG5):c.350C>T (p.Ala117Val) rs372840001
NM_020964.3(EPG5):c.3582+3A>G rs1210376180
NM_020964.3(EPG5):c.35_40AGGCCA[3] (p.12_13KA[3]) rs769267797
NM_020964.3(EPG5):c.3608G>A (p.Arg1203Gln) rs200186919
NM_020964.3(EPG5):c.3614del (p.Leu1205fs) rs1568150793
NM_020964.3(EPG5):c.3632G>A (p.Ser1211Asn)
NM_020964.3(EPG5):c.3652A>G (p.Ile1218Val) rs546759895
NM_020964.3(EPG5):c.3683C>T (p.Thr1228Met) rs556565796
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) rs1555673917
NM_020964.3(EPG5):c.3721A>G (p.Met1241Val)
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro) rs1568149047
NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp) rs78690150
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer) rs1555673890
NM_020964.3(EPG5):c.3938A>G (p.Gln1313Arg)
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800
NM_020964.3(EPG5):c.4001G>C (p.Cys1334Ser)
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950
NM_020964.3(EPG5):c.4037T>C (p.Ile1346Thr)
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976
NM_020964.3(EPG5):c.4062A>G (p.Arg1354=) rs756098385
NM_020964.3(EPG5):c.407A>G (p.Lys136Arg) rs199571302
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln) rs200079588
NM_020964.3(EPG5):c.4163C>T (p.Pro1388Leu) rs543543733
NM_020964.3(EPG5):c.4164_4165delinsAT (p.Gly1389Cys)
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys) rs551488784
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys) rs749547713
NM_020964.3(EPG5):c.4231C>A (p.Leu1411Ile) rs1406862002
NM_020964.3(EPG5):c.424G>A (p.Glu142Lys) rs190673127
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter) rs190673127
NM_020964.3(EPG5):c.4250A>C (p.Gln1417Pro)
NM_020964.3(EPG5):c.4261A>G (p.Thr1421Ala)
NM_020964.3(EPG5):c.4286del (p.His1429fs) rs1568142333
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter)
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys) rs761064074
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs) rs1599536432
NM_020964.3(EPG5):c.438G>A (p.Ser146=) rs186410807
NM_020964.3(EPG5):c.4502G>A (p.Arg1501Gln) rs186784974
NM_020964.3(EPG5):c.4522C>T (p.Pro1508Ser) rs199718702
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033
NM_020964.3(EPG5):c.4544C>T (p.Thr1515Met) rs199811412
NM_020964.3(EPG5):c.4549C>T (p.Pro1517Ser) rs369136227
NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu) rs375867560
NM_020964.3(EPG5):c.4581A>G (p.Leu1527=) rs200617597
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe) rs199978382
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.4601C>T (p.Thr1534Ile) rs1599529163
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=) rs182255496
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys)
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
NM_020964.3(EPG5):c.4681C>G (p.Leu1561Val)
NM_020964.3(EPG5):c.4687G>T (p.Gly1563Cys) rs751554863
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4766G>A (p.Ser1589Asn) rs201062477
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=) rs368086133
NM_020964.3(EPG5):c.4802C>T (p.Thr1601Met) rs200576622
NM_020964.3(EPG5):c.4891G>A (p.Ala1631Thr) rs182512524
NM_020964.3(EPG5):c.494C>T (p.Pro165Leu) rs201402291
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu) rs375606930
NM_020964.3(EPG5):c.5023A>G (p.Thr1675Ala) rs200776693
NM_020964.3(EPG5):c.5026A>G (p.Ile1676Val)
NM_020964.3(EPG5):c.5037C>T (p.Tyr1679=) rs374671966
NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met) rs188800635
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=) rs199648768
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=) rs35073566
NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile)
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338
NM_020964.3(EPG5):c.5273A>G (p.Asn1758Ser) rs143519809
NM_020964.3(EPG5):c.5359A>G (p.Arg1787Gly)
NM_020964.3(EPG5):c.5383G>T (p.Ala1795Ser) rs369731452
NM_020964.3(EPG5):c.5385A>T (p.Ala1795=) rs376809635
NM_020964.3(EPG5):c.5390C>G (p.Thr1797Ser)
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5545G>A (p.Glu1849Lys) rs777698208
NM_020964.3(EPG5):c.5560A>T (p.Thr1854Ser) rs758263741
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn) rs34064739
NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp) rs762207905
NM_020964.3(EPG5):c.5614A>G (p.Thr1872Ala) rs1568116795
NM_020964.3(EPG5):c.5616C>A (p.Thr1872=) rs141282194
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=) rs141282194
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val) rs148241618
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358
NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn) rs1213600316
NM_020964.3(EPG5):c.5648C>T (p.Ala1883Val)
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=) rs114131140
NM_020964.3(EPG5):c.5667+4T>C
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=) rs34545102
NM_020964.3(EPG5):c.5735A>C (p.Lys1912Thr) rs754227425
NM_020964.3(EPG5):c.5737A>T (p.Ser1913Cys) rs1555666104
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.5885A>G (p.His1962Arg)
NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys) rs150214973
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln) rs34674177
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile) rs777008903
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6044T>C (p.Phe2015Ser) rs756154171
NM_020964.3(EPG5):c.6049+5G>A
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.6112T>G (p.Cys2038Gly)
NM_020964.3(EPG5):c.6116C>T (p.Thr2039Ile) rs768999379
NM_020964.3(EPG5):c.611A>G (p.Lys204Arg) rs749123170
NM_020964.3(EPG5):c.6147C>T (p.Tyr2049=) rs371980254
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=) rs368651243
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6167G>A (p.Arg2056Gln)
NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly) rs764464544
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs) rs1599447883
NM_020964.3(EPG5):c.6360C>T (p.Leu2120=) rs373515613
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg) rs369070714
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=) rs114665741
NM_020964.3(EPG5):c.6518C>T (p.Pro2173Leu)
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476
NM_020964.3(EPG5):c.6535G>A (p.Ala2179Thr) rs1245545639
NM_020964.3(EPG5):c.654G>T (p.Gln218His) rs753111853
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
NM_020964.3(EPG5):c.6595A>G (p.Ile2199Val) rs1555662276
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020964.3(EPG5):c.6622-6G>T rs1309916888
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_020964.3(EPG5):c.6622-9_6622-7del rs11333207
NM_020964.3(EPG5):c.6623A>G (p.Asp2208Gly) rs1177226409
NM_020964.3(EPG5):c.6726G>A (p.Met2242Ile) rs866193216
NM_020964.3(EPG5):c.6730A>G (p.Lys2244Glu) rs560080785
NM_020964.3(EPG5):c.674G>C (p.Gly225Ala) rs200910594
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu)
NM_020964.3(EPG5):c.6765C>T (p.Pro2255=) rs200203116
NM_020964.3(EPG5):c.6767-8C>T rs748817848
NM_020964.3(EPG5):c.6769A>G (p.Met2257Val) rs201722679
NM_020964.3(EPG5):c.6787C>G (p.His2263Asp) rs201639757
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142
NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val) rs200754523
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln) rs200151675
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr) rs201213000
NM_020964.3(EPG5):c.6855A>T (p.Ala2285=) rs375424781
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly) rs372382701
NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter)
NM_020964.3(EPG5):c.6889G>C (p.Gly2297Arg) rs1599429977
NM_020964.3(EPG5):c.688T>G (p.Leu230Val) rs774387511
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=) rs774873040
NM_020964.3(EPG5):c.7028C>T (p.Ser2343Leu)
NM_020964.3(EPG5):c.7082A>C (p.Glu2361Ala) rs374750937
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu) rs370270531
NM_020964.3(EPG5):c.7152C>A (p.Asn2384Lys) rs201507415
NM_020964.3(EPG5):c.7155C>T (p.Ser2385=) rs376292945
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter)
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966
NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg) rs137887553
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_020964.3(EPG5):c.7245A>C (p.Ala2415=) rs1245397728
NM_020964.3(EPG5):c.7286T>A (p.Leu2429His)
NM_020964.3(EPG5):c.7311C>T (p.Ser2437=) rs377487870
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp)
NM_020964.3(EPG5):c.7458C>T (p.Ala2486=) rs374322299
NM_020964.3(EPG5):c.7460G>A (p.Arg2487Gln) rs912810095
NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile)
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915
NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe) rs1447140985
NM_020964.3(EPG5):c.7558-8T>C rs759398169
NM_020964.3(EPG5):c.7621T>C (p.Leu2541=) rs371309452
NM_020964.3(EPG5):c.7674A>G (p.Lys2558=) rs1555658766
NM_020964.3(EPG5):c.7692C>T (p.Leu2564=) rs747189808
NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile) rs777854920
NM_020964.3(EPG5):c.780A>G (p.Leu260=) rs186213665
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079
NM_020964.3(EPG5):c.814G>A (p.Val272Ile)
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289
NM_020964.3(EPG5):c.968G>T (p.Ser323Ile)
NM_020964.3(EPG5):c.974T>G (p.Leu325Arg) rs1181548699
NM_020964.3(EPG5):c.995A>G (p.Gln332Arg) rs374633337
Single allele

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