ClinVar Miner

List of variants reported as likely benign for alobar holoprosencephaly by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646 0.00176
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
NM_007129.5(ZIC2):c.1398G>T (p.Ala466=) rs748825084 0.00094
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001374353.1(GLI2):c.4073T>C (p.Leu1358Pro) rs371219507 0.00074
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_007129.5(ZIC2):c.1494C>A (p.Gly498=) rs949949328 0.00057
NM_001374353.1(GLI2):c.148+5T>C rs201273354 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala) rs970835131 0.00046
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853 0.00041
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile) rs138909736 0.00037
NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr) rs111840592 0.00037
NM_001374353.1(GLI2):c.2271T>C (p.Ser757=) rs553560055 0.00036
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln) rs148442092 0.00035
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=) rs145751002 0.00035
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069 0.00033
NM_007129.5(ZIC2):c.879C>T (p.Gly293=) rs138007077 0.00033
NM_001374353.1(GLI2):c.3572G>A (p.Arg1191His) rs200537256 0.00029
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=) rs147314921 0.00024
NM_001374353.1(GLI2):c.4473C>T (p.Pro1491=) rs139840265 0.00024
NM_001374353.1(GLI2):c.243C>T (p.His81=) rs147403076 0.00023
NM_007129.5(ZIC2):c.642C>T (p.Tyr214=) rs202231540 0.00022
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala) rs377454502 0.00021
NM_001374353.1(GLI2):c.2007G>A (p.Thr669=) rs138592005 0.00021
NM_001374353.1(GLI2):c.2502C>T (p.Ser834=) rs765818439 0.00020
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly) rs1260890491 0.00019
NM_001374353.1(GLI2):c.637G>A (p.Val213Met) rs202139687 0.00019
NM_001374353.1(GLI2):c.132G>A (p.Ala44=) rs145778937 0.00017
NM_001374353.1(GLI2):c.189G>A (p.Pro63=) rs200471311 0.00016
NM_001374353.1(GLI2):c.845+10G>A rs199673018 0.00015
NM_007129.5(ZIC2):c.1221G>A (p.Ser407=) rs369127058 0.00015
NM_001374353.1(GLI2):c.9G>A (p.Thr3=) rs199524680 0.00014
NM_007129.5(ZIC2):c.459G>T (p.Ala153=) rs771629736 0.00014
NM_001374353.1(GLI2):c.1497C>A (p.Arg499=) rs542656225 0.00013
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743 0.00013
NM_001374353.1(GLI2):c.563C>T (p.Ala188Val) rs147419287 0.00013
NM_001374353.1(GLI2):c.2886G>A (p.Leu962=) rs777165274 0.00012
NM_007129.5(ZIC2):c.1587A>G (p.Glu529=) rs755906674 0.00012
NM_001374353.1(GLI2):c.1587C>T (p.Asn529=) rs767400136 0.00011
NM_001374353.1(GLI2):c.2458G>A (p.Glu820Lys) rs193090538 0.00011
NM_001374353.1(GLI2):c.1760A>C (p.His587Pro) rs756664261 0.00010
NM_001374353.1(GLI2):c.845+14G>A rs370294059 0.00010
NM_007129.5(ZIC2):c.297G>A (p.Gly99=) rs912113781 0.00010
NM_001374353.1(GLI2):c.1577C>G (p.Ala526Gly) rs201279367 0.00009
NM_001374353.1(GLI2):c.252C>T (p.His84=) rs201412339 0.00009
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys) rs770936696 0.00009
NM_001374353.1(GLI2):c.78C>T (p.Pro26=) rs373668718 0.00009
NM_007129.5(ZIC2):c.552C>T (p.Pro184=) rs554801676 0.00009
NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg) rs780303555 0.00008
NM_001374353.1(GLI2):c.1875C>T (p.His625=) rs372341303 0.00007
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.672G>A (p.Thr224=) rs147049153 0.00006
NM_007129.5(ZIC2):c.1374G>A (p.Ala458=) rs757103144 0.00006
NM_007129.5(ZIC2):c.348C>A (p.Thr116=) rs1264657841 0.00006
NM_001374353.1(GLI2):c.1701T>C (p.His567=) rs370382506 0.00005
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406 0.00005
NM_001374353.1(GLI2):c.3405C>T (p.Gly1135=) rs753450963 0.00005
NM_001374353.1(GLI2):c.1095C>T (p.Thr365=) rs374705620 0.00004
NM_001374353.1(GLI2):c.1158G>A (p.Pro386=) rs141647925 0.00004
NM_001374353.1(GLI2):c.1293C>T (p.Tyr431=) rs768259857 0.00004
NM_001374353.1(GLI2):c.1633-4C>G rs377701321 0.00004
NM_001374353.1(GLI2):c.1815T>C (p.Pro605=) rs146766721 0.00004
NM_001374353.1(GLI2):c.1906-11G>A rs769187484 0.00004
NM_001374353.1(GLI2):c.2061C>T (p.Ala687=) rs374564316 0.00004
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr) rs553780090 0.00004
NM_001374353.1(GLI2):c.2667G>C (p.Pro889=) rs767130064 0.00004
NM_001374353.1(GLI2):c.3489T>C (p.Phe1163=) rs766031476 0.00004
NM_001374353.1(GLI2):c.402C>T (p.His134=) rs200675247 0.00004
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.495C>T (p.Gly165=) rs193062450 0.00004
NM_001374353.1(GLI2):c.606C>T (p.Ser202=) rs146181686 0.00004
NM_001374353.1(GLI2):c.846-18G>A rs765320072 0.00004
NM_007129.5(ZIC2):c.885G>A (p.Pro295=) rs779344309 0.00004
NM_001374353.1(GLI2):c.131C>T (p.Ala44Val) rs200095340 0.00003
NM_001374353.1(GLI2):c.1633-5C>T rs551256208 0.00003
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=) rs139202322 0.00003
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=) rs565184396 0.00003
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) rs761090665 0.00003
NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=) rs369264013 0.00003
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His) rs201523549 0.00003
NM_001374353.1(GLI2):c.4440C>T (p.Ser1480=) rs1403391073 0.00003
NM_007129.5(ZIC2):c.1347C>T (p.Ser449=) rs1023574991 0.00003
NM_007129.5(ZIC2):c.855A>G (p.Thr285=) rs780880109 0.00003
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840 0.00002
NM_001374353.1(GLI2):c.1632+10C>T rs769094105 0.00002
NM_001374353.1(GLI2):c.2571C>G (p.Gly857=) rs757164059 0.00002
NM_001374353.1(GLI2):c.30C>T (p.Ser10=) rs145169912 0.00002
NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=) rs771337922 0.00002
NM_007129.5(ZIC2):c.282G>C (p.Ala94=) rs886038582 0.00002
NM_007129.5(ZIC2):c.420G>A (p.Gly140=) rs747747563 0.00002
NM_001374353.1(GLI2):c.120G>A (p.Ala40=) rs202130125 0.00001
NM_001374353.1(GLI2):c.123A>G (p.Ala41=) rs200321870 0.00001
NM_001374353.1(GLI2):c.1519C>T (p.Leu507=) rs1205997619 0.00001
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00001
NM_001374353.1(GLI2):c.2484C>T (p.Arg828=) rs1190519823 0.00001
NM_001374353.1(GLI2):c.2884C>T (p.Leu962=) rs1345329176 0.00001
NM_001374353.1(GLI2):c.3051C>T (p.Asn1017=) rs751735227 0.00001
NM_001374353.1(GLI2):c.3066C>T (p.Ala1022=) rs1472557461 0.00001
NM_001374353.1(GLI2):c.4350G>A (p.Gln1450=) rs1683233094 0.00001
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514 0.00001
NM_001374353.1(GLI2):c.819C>T (p.Tyr273=) rs527693910 0.00001
NM_001374353.1(GLI2):c.879C>T (p.Pro293=) rs1318325355 0.00001
NM_007129.5(ZIC2):c.1146G>A (p.Lys382=) rs760314965 0.00001
NM_007129.5(ZIC2):c.1167C>G (p.Ser389=) rs1183417795 0.00001
NM_007129.5(ZIC2):c.1290C>T (p.Ser430=) rs780916615 0.00001
NM_007129.5(ZIC2):c.1506G>T (p.Ala502=) rs773682579 0.00001
NM_007129.5(ZIC2):c.261C>T (p.Gly87=) rs1024248405 0.00001
NM_007129.5(ZIC2):c.522G>T (p.Val174=) rs1482587836 0.00001
NM_007129.5(ZIC2):c.627A>G (p.Gln209=) rs766439036 0.00001
NM_007129.5(ZIC2):c.876C>G (p.Val292=) rs1207711011 0.00001
NM_001374353.1(GLI2):c.1059+20A>G
NM_001374353.1(GLI2):c.1060-12A>G
NM_001374353.1(GLI2):c.1083C>T (p.Ala361=)
NM_001374353.1(GLI2):c.1137C>T (p.Thr379=)
NM_001374353.1(GLI2):c.1179G>A (p.Thr393=)
NM_001374353.1(GLI2):c.1183-4C>T rs1682382173
NM_001374353.1(GLI2):c.1183-65C>T
NM_001374353.1(GLI2):c.1318-14T>C
NM_001374353.1(GLI2):c.1341C>T (p.His447=)
NM_001374353.1(GLI2):c.1428C>T (p.His476=)
NM_001374353.1(GLI2):c.1467+9C>T
NM_001374353.1(GLI2):c.1468-12G>A
NM_001374353.1(GLI2):c.1468-13C>T
NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)
NM_001374353.1(GLI2):c.148+12T>A rs2104697160
NM_001374353.1(GLI2):c.148+20C>T
NM_001374353.1(GLI2):c.1560C>T (p.His520=)
NM_001374353.1(GLI2):c.1584C>G (p.Ser528=) rs2105064545
NM_001374353.1(GLI2):c.1599C>T (p.Arg533=)
NM_001374353.1(GLI2):c.1633-14G>T
NM_001374353.1(GLI2):c.1731C>T (p.His577=)
NM_001374353.1(GLI2):c.1833C>T (p.Thr611=)
NM_001374353.1(GLI2):c.1899C>T (p.Ser633=)
NM_001374353.1(GLI2):c.1902C>T (p.Ser634=)
NM_001374353.1(GLI2):c.1905+12T>C
NM_001374353.1(GLI2):c.1923C>G (p.Pro641=)
NM_001374353.1(GLI2):c.1929C>T (p.Ala643=) rs1682970189
NM_001374353.1(GLI2):c.1932G>A (p.Gln644=)
NM_001374353.1(GLI2):c.2064C>T (p.Asp688=)
NM_001374353.1(GLI2):c.2196G>A (p.Pro732=)
NM_001374353.1(GLI2):c.2209C>A (p.Arg737=) rs138932004
NM_001374353.1(GLI2):c.2242+18G>T
NM_001374353.1(GLI2):c.2403C>T (p.Thr801=) rs1440441101
NM_001374353.1(GLI2):c.2466G>A (p.Ser822=)
NM_001374353.1(GLI2):c.2481C>G (p.Gly827=)
NM_001374353.1(GLI2):c.2577C>T (p.Ser859=)
NM_001374353.1(GLI2):c.2580G>A (p.Gly860=)
NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)
NM_001374353.1(GLI2):c.258C>T (p.Pro86=)
NM_001374353.1(GLI2):c.2617C>A (p.Arg873=)
NM_001374353.1(GLI2):c.2631G>C (p.Ala877=)
NM_001374353.1(GLI2):c.2652G>T (p.Pro884=) rs926908365
NM_001374353.1(GLI2):c.2715G>T (p.Ala905=)
NM_001374353.1(GLI2):c.2748C>T (p.Arg916=)
NM_001374353.1(GLI2):c.2751A>C (p.Pro917=)
NM_001374353.1(GLI2):c.2877C>T (p.Pro959=)
NM_001374353.1(GLI2):c.2883C>G (p.Ala961=)
NM_001374353.1(GLI2):c.2949C>T (p.Pro983=)
NM_001374353.1(GLI2):c.2982C>T (p.Ser994=)
NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)
NM_001374353.1(GLI2):c.3072G>C (p.Ala1024=)
NM_001374353.1(GLI2):c.3084C>T (p.Asp1028=)
NM_001374353.1(GLI2):c.3090G>A (p.Ala1030=) rs749578390
NM_001374353.1(GLI2):c.3117G>A (p.Pro1039=)
NM_001374353.1(GLI2):c.3195C>T (p.Thr1065=)
NM_001374353.1(GLI2):c.3255G>A (p.Pro1085=)
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) rs141988240
NM_001374353.1(GLI2):c.3423C>A (p.Ala1141=)
NM_001374353.1(GLI2):c.3465G>A (p.Ala1155=) rs141356812
NM_001374353.1(GLI2):c.3468G>T (p.Val1156=)
NM_001374353.1(GLI2):c.3501G>A (p.Pro1167=)
NM_001374353.1(GLI2):c.3504C>T (p.Gly1168=)
NM_001374353.1(GLI2):c.3585C>T (p.Pro1195=)
NM_001374353.1(GLI2):c.3603G>A (p.Arg1201=) rs2105093446
NM_001374353.1(GLI2):c.3612C>T (p.Tyr1204=)
NM_001374353.1(GLI2):c.3624G>T (p.Leu1208=)
NM_001374353.1(GLI2):c.3699C>T (p.Val1233=) rs1195795024
NM_001374353.1(GLI2):c.3732G>T (p.Gly1244=)
NM_001374353.1(GLI2):c.3841C>T (p.Arg1281Cys)
NM_001374353.1(GLI2):c.3879T>C (p.Ala1293=)
NM_001374353.1(GLI2):c.3951G>A (p.Gln1317=)
NM_001374353.1(GLI2):c.4023G>A (p.Pro1341=)
NM_001374353.1(GLI2):c.4074C>T (p.Leu1358=)
NM_001374353.1(GLI2):c.4110T>G (p.Arg1370=)
NM_001374353.1(GLI2):c.4254C>T (p.Asp1418=)
NM_001374353.1(GLI2):c.4258G>A (p.Gly1420Ser) rs149163880
NM_001374353.1(GLI2):c.4269G>A (p.Pro1423=)
NM_001374353.1(GLI2):c.4327C>T (p.Leu1443=)
NM_001374353.1(GLI2):c.4338C>T (p.Leu1446=)
NM_001374353.1(GLI2):c.4404C>G (p.Pro1468=)
NM_001374353.1(GLI2):c.4509T>C (p.Asp1503=)
NM_001374353.1(GLI2):c.4515G>A (p.Ser1505=)
NM_001374353.1(GLI2):c.4560C>A (p.Leu1520=) rs1335405295
NM_001374353.1(GLI2):c.4560C>T (p.Leu1520=)
NM_001374353.1(GLI2):c.4620C>T (p.Pro1540=)
NM_001374353.1(GLI2):c.4644C>T (p.Val1548=)
NM_001374353.1(GLI2):c.564G>A (p.Ala188=)
NM_001374353.1(GLI2):c.621C>T (p.His207=)
NM_001374353.1(GLI2):c.643+15_643+16delinsTG rs2104965814
NM_001374353.1(GLI2):c.643+16C>A
NM_001374353.1(GLI2):c.644-11C>T
NM_001374353.1(GLI2):c.654C>T (p.Phe218=)
NM_001374353.1(GLI2):c.693G>A (p.Arg231=)
NM_001374353.1(GLI2):c.75C>T (p.Phe25=)
NM_001374353.1(GLI2):c.804G>A (p.Ala268=)
NM_001374353.1(GLI2):c.845+17A>G
NM_001374353.1(GLI2):c.861C>T (p.Phe287=) rs2105019550
NM_001374353.1(GLI2):c.945C>T (p.Pro315=)
NM_007129.5(ZIC2):c.102G>A (p.Glu34=)
NM_007129.5(ZIC2):c.1068C>G (p.Thr356=)
NM_007129.5(ZIC2):c.1075+15G>A
NM_007129.5(ZIC2):c.1075+18C>T rs1007874796
NM_007129.5(ZIC2):c.1076-18G>A
NM_007129.5(ZIC2):c.1076-18G>T
NM_007129.5(ZIC2):c.1076-8G>A
NM_007129.5(ZIC2):c.1086G>C (p.Pro362=) rs996264199
NM_007129.5(ZIC2):c.1104G>A (p.Glu368=)
NM_007129.5(ZIC2):c.1119C>T (p.Arg373=)
NM_007129.5(ZIC2):c.1122C>T (p.Phe374=)
NM_007129.5(ZIC2):c.1164C>A (p.Thr388=)
NM_007129.5(ZIC2):c.1227G>A (p.Arg409=) rs2053257052
NM_007129.5(ZIC2):c.1239+11G>C
NM_007129.5(ZIC2):c.1239+7C>T
NM_007129.5(ZIC2):c.1239+9G>A
NM_007129.5(ZIC2):c.1239+9G>T
NM_007129.5(ZIC2):c.1240-11T>C
NM_007129.5(ZIC2):c.1251C>T (p.Ser417=)
NM_007129.5(ZIC2):c.1257G>T (p.Pro419=)
NM_007129.5(ZIC2):c.1281C>T (p.Ala427=)
NM_007129.5(ZIC2):c.1302G>A (p.Ser434=) rs376758883
NM_007129.5(ZIC2):c.1308G>A (p.Thr436=)
NM_007129.5(ZIC2):c.1320G>T (p.Leu440=)
NM_007129.5(ZIC2):c.1335C>G (p.Ala445=)
NM_007129.5(ZIC2):c.1377A>T (p.Ala459=)
NM_007129.5(ZIC2):c.1380G>A (p.Ala460=)
NM_007129.5(ZIC2):c.1383G>A (p.Ala461=)
NM_007129.5(ZIC2):c.1383G>C (p.Ala461=)
NM_007129.5(ZIC2):c.1392T>A (p.Ala464=) rs921926048
NM_007129.5(ZIC2):c.1392T>C (p.Ala464=) rs921926048
NM_007129.5(ZIC2):c.1392T>G (p.Ala464=) rs921926048
NM_007129.5(ZIC2):c.1419G>A (p.Ala473=)
NM_007129.5(ZIC2):c.1437C>G (p.Gly479=)
NM_007129.5(ZIC2):c.1449C>T (p.Gly483=)
NM_007129.5(ZIC2):c.1497C>A (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.1497C>T (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.1521C>T (p.Gly507=)
NM_007129.5(ZIC2):c.1536G>A (p.Gly512=)
NM_007129.5(ZIC2):c.1536G>C (p.Gly512=) rs557916722
NM_007129.5(ZIC2):c.1572C>A (p.Ser524=)
NM_007129.5(ZIC2):c.192G>C (p.Pro64=)
NM_007129.5(ZIC2):c.195C>T (p.Gly65=)
NM_007129.5(ZIC2):c.210C>G (p.Ser70=)
NM_007129.5(ZIC2):c.27C>T (p.Phe9=)
NM_007129.5(ZIC2):c.282G>T (p.Ala94=)
NM_007129.5(ZIC2):c.300C>T (p.Pro100=)
NM_007129.5(ZIC2):c.330G>A (p.Gly110=)
NM_007129.5(ZIC2):c.358C>T (p.Leu120=)
NM_007129.5(ZIC2):c.393G>T (p.Pro131=)
NM_007129.5(ZIC2):c.399C>T (p.Gly133=)
NM_007129.5(ZIC2):c.412C>T (p.Leu138=)
NM_007129.5(ZIC2):c.441C>T (p.His147=)
NM_007129.5(ZIC2):c.450C>T (p.His150=)
NM_007129.5(ZIC2):c.465C>A (p.Gly155=)
NM_007129.5(ZIC2):c.480G>C (p.Pro160=)
NM_007129.5(ZIC2):c.489A>G (p.Pro163=)
NM_007129.5(ZIC2):c.497A>G (p.His166Arg)
NM_007129.5(ZIC2):c.507C>T (p.His169=)
NM_007129.5(ZIC2):c.525C>T (p.Leu175=)
NM_007129.5(ZIC2):c.543C>G (p.Leu181=)
NM_007129.5(ZIC2):c.54G>T (p.Ala18=)
NM_007129.5(ZIC2):c.552C>G (p.Pro184=) rs554801676
NM_007129.5(ZIC2):c.57C>T (p.Arg19=)
NM_007129.5(ZIC2):c.601C>A (p.Arg201=)
NM_007129.5(ZIC2):c.615C>T (p.Tyr205=)
NM_007129.5(ZIC2):c.660C>T (p.Asn220=)
NM_007129.5(ZIC2):c.687G>A (p.Ala229=) rs1404616638
NM_007129.5(ZIC2):c.6C>T (p.Leu2=)
NM_007129.5(ZIC2):c.744G>A (p.Arg248=) rs773487576
NM_007129.5(ZIC2):c.762G>A (p.Gln254=)
NM_007129.5(ZIC2):c.771C>T (p.Ile257=)
NM_007129.5(ZIC2):c.795A>G (p.Gln265=)
NM_007129.5(ZIC2):c.804T>C (p.Asn268=)
NM_007129.5(ZIC2):c.810G>A (p.Lys270=)
NM_007129.5(ZIC2):c.813G>A (p.Lys271=)
NM_007129.5(ZIC2):c.816C>T (p.Ser272=)
NM_007129.5(ZIC2):c.957A>G (p.Lys319=) rs1448074291
NM_007129.5(ZIC2):c.972C>T (p.Ile324=)

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