ClinVar Miner

List of variants in gene CORO1A studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_007074.4(CORO1A):c.1065+14G>A rs35900366 0.16173
NM_007074.4(CORO1A):c.1101C>T (p.Thr367=) rs139282852 0.00446
NM_007074.4(CORO1A):c.804C>T (p.Ser268=) rs149867063 0.00385
NM_007074.4(CORO1A):c.1065+9C>T rs117288362 0.00305
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His) rs150857828 0.00265
NM_007074.4(CORO1A):c.861+11C>T rs547256571 0.00173
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_007074.4(CORO1A):c.451+8G>A rs112123877 0.00131
NM_007074.4(CORO1A):c.861+19G>A rs376463194 0.00127
NM_007074.4(CORO1A):c.346C>T (p.Leu116=) rs138146826 0.00048
NM_007074.4(CORO1A):c.322-4G>A rs199732212 0.00027
NM_007074.4(CORO1A):c.372C>T (p.Val124=) rs149599538 0.00025
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831 0.00024
NM_007074.4(CORO1A):c.792G>A (p.Leu264=) rs139024575 0.00022
NM_007074.4(CORO1A):c.347T>C (p.Leu116Pro) rs566260573 0.00019
NM_007074.4(CORO1A):c.1074G>C (p.Leu358=) rs376540649 0.00014
NM_007074.4(CORO1A):c.862-13C>G rs745611340 0.00014
NM_007074.4(CORO1A):c.1252G>A (p.Ala418Thr) rs757620393 0.00010
NM_007074.4(CORO1A):c.1251A>C (p.Ala417=) rs754103097 0.00009
NM_007074.4(CORO1A):c.837C>T (p.Thr279=) rs113875403 0.00009
NM_007074.4(CORO1A):c.897C>T (p.Ser299=) rs535362943 0.00009
NM_007074.4(CORO1A):c.198+17C>T rs772480582 0.00008
NM_007074.4(CORO1A):c.369C>T (p.Pro123=) rs200437355 0.00008
NM_007074.4(CORO1A):c.199-16C>G rs200317965 0.00006
NM_007074.4(CORO1A):c.285C>T (p.Asn95=) rs184262856 0.00006
NM_007074.4(CORO1A):c.996T>C (p.Cys332=) rs199960741 0.00006
NM_007074.4(CORO1A):c.1065+8T>A rs376878354 0.00005
NM_007074.4(CORO1A):c.1222C>T (p.Arg408Trp) rs373093101 0.00005
NM_007074.4(CORO1A):c.520G>A (p.Val174Met) rs769707848 0.00005
NM_007074.4(CORO1A):c.1007+13C>T rs201613058 0.00004
NM_007074.4(CORO1A):c.1066-10T>A rs376818272 0.00004
NM_007074.4(CORO1A):c.1066-7C>T rs767306235 0.00004
NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg) rs751313483 0.00004
NM_007074.4(CORO1A):c.452-7C>T rs368186458 0.00004
NM_007074.4(CORO1A):c.840C>T (p.Asn280=) rs775074204 0.00004
NM_007074.4(CORO1A):c.451+7C>T rs761205413 0.00003
NM_007074.4(CORO1A):c.462C>T (p.Asn154=) rs762370414 0.00003
NM_007074.4(CORO1A):c.500T>C (p.Met167Thr) rs527428900 0.00003
NM_007074.4(CORO1A):c.757-10G>C rs367708753 0.00003
NM_007074.4(CORO1A):c.844G>C (p.Val282Leu) rs763606361 0.00003
NM_007074.4(CORO1A):c.861+16G>A rs752677244 0.00003
NM_007074.4(CORO1A):c.1032G>A (p.Arg344=) rs199896375 0.00002
NM_007074.4(CORO1A):c.1141G>A (p.Gly381Arg) rs775671937 0.00002
NM_007074.4(CORO1A):c.1214G>T (p.Arg405Met) rs369828613 0.00002
NM_007074.4(CORO1A):c.1280C>T (p.Ser427Leu) rs781058961 0.00002
NM_007074.4(CORO1A):c.199-12C>T rs1194635759 0.00002
NM_007074.4(CORO1A):c.452-6G>A rs754372756 0.00002
NM_007074.4(CORO1A):c.54G>C (p.Pro18=) rs61736363 0.00002
NM_007074.4(CORO1A):c.774G>A (p.Pro258=) rs187747730 0.00002
NM_007074.4(CORO1A):c.87C>T (p.Arg29=) rs772565520 0.00002
NM_007074.4(CORO1A):c.1007+9C>A rs376748014 0.00001
NM_007074.4(CORO1A):c.1066-8G>C rs371839104 0.00001
NM_007074.4(CORO1A):c.1110C>T (p.Pro370=) rs770260782 0.00001
NM_007074.4(CORO1A):c.1154C>T (p.Ala385Val) rs776691038 0.00001
NM_007074.4(CORO1A):c.1173C>T (p.Ser391=) rs571608809 0.00001
NM_007074.4(CORO1A):c.1224G>C (p.Arg408=) rs768451328 0.00001
NM_007074.4(CORO1A):c.1236C>T (p.Thr412=) rs557170757 0.00001
NM_007074.4(CORO1A):c.222G>A (p.Ala74=) rs747607776 0.00001
NM_007074.4(CORO1A):c.227C>T (p.Thr76Met) rs768984732 0.00001
NM_007074.4(CORO1A):c.237C>T (p.Gly79=) rs201766395 0.00001
NM_007074.4(CORO1A):c.261C>T (p.Ile87=) rs763085431 0.00001
NM_007074.4(CORO1A):c.272C>T (p.Pro91Leu) rs773962517 0.00001
NM_007074.4(CORO1A):c.276C>A (p.His92Gln) rs775164105 0.00001
NM_007074.4(CORO1A):c.286G>A (p.Val96Ile) rs756845489 0.00001
NM_007074.4(CORO1A):c.362G>A (p.Arg121Gln) rs779055659 0.00001
NM_007074.4(CORO1A):c.408T>C (p.Ile136=) rs1435378677 0.00001
NM_007074.4(CORO1A):c.435C>T (p.Asn145=) rs762584647 0.00001
NM_007074.4(CORO1A):c.436G>A (p.Val146Met) rs957489816 0.00001
NM_007074.4(CORO1A):c.463G>A (p.Val155Met) rs765244440 0.00001
NM_007074.4(CORO1A):c.480C>T (p.Asp160=) rs1445453106 0.00001
NM_007074.4(CORO1A):c.514C>G (p.Pro172Ala) rs1160891433 0.00001
NM_007074.4(CORO1A):c.533C>T (p.Thr178Met) rs551747429 0.00001
NM_007074.4(CORO1A):c.57C>T (p.Ala19=) rs1032858184 0.00001
NM_007074.4(CORO1A):c.877C>T (p.Arg293Trp) rs1262973323 0.00001
NM_007074.4(CORO1A):c.931A>G (p.Ser311Gly) rs769394096 0.00001
NM_007074.4(CORO1A):c.936C>T (p.Ser312=) rs148629867 0.00001
NC_000016.9:g.(?_30196531)_30199897del
NM_007074.3(CORO1A):c.[1078delC];[248_249delCT]
NM_007074.4(CORO1A):c.1002C>T (p.Ile334=) rs377351892
NM_007074.4(CORO1A):c.1007+14G>A
NM_007074.4(CORO1A):c.1007+15dup
NM_007074.4(CORO1A):c.1007+1G>A rs2151063274
NM_007074.4(CORO1A):c.1007+8del
NM_007074.4(CORO1A):c.1008-10C>T
NM_007074.4(CORO1A):c.1008-8T>A
NM_007074.4(CORO1A):c.1020G>A (p.Leu340=)
NM_007074.4(CORO1A):c.1023C>T (p.His341=)
NM_007074.4(CORO1A):c.103T>C (p.Trp35Arg)
NM_007074.4(CORO1A):c.1065+13C>T
NM_007074.4(CORO1A):c.1065+13del
NM_007074.4(CORO1A):c.1065+15C>T
NM_007074.4(CORO1A):c.1065+2T>C rs112728974
NM_007074.4(CORO1A):c.1066-13G>A
NM_007074.4(CORO1A):c.1066-3_1066-2del rs2151063462
NM_007074.4(CORO1A):c.1066-8G>A
NM_007074.4(CORO1A):c.1068G>A (p.Ser356=)
NM_007074.4(CORO1A):c.1068G>C (p.Ser356=)
NM_007074.4(CORO1A):c.1078del (p.Gln360fs) rs606231256
NM_007074.4(CORO1A):c.1080G>A (p.Gln360=)
NM_007074.4(CORO1A):c.1085A>T (p.Asp362Val) rs2151063474
NM_007074.4(CORO1A):c.1089G>A (p.Leu363=)
NM_007074.4(CORO1A):c.1098C>T (p.Pro366=)
NM_007074.4(CORO1A):c.1100C>G (p.Thr367Ser)
NM_007074.4(CORO1A):c.1102G>T (p.Ala368Ser) rs1028173314
NM_007074.4(CORO1A):c.1115C>G (p.Pro372Arg)
NM_007074.4(CORO1A):c.1122C>A (p.Leu374=)
NM_007074.4(CORO1A):c.1124C>G (p.Thr375Arg)
NM_007074.4(CORO1A):c.1127C>G (p.Ala376Gly)
NM_007074.4(CORO1A):c.1134G>A (p.Glu378=)
NM_007074.4(CORO1A):c.1156G>A (p.Gly386Arg)
NM_007074.4(CORO1A):c.1161C>G (p.Pro387=) rs375181897
NM_007074.4(CORO1A):c.1172C>T (p.Ser391Phe)
NM_007074.4(CORO1A):c.1180G>A (p.Asp394Asn)
NM_007074.4(CORO1A):c.1188C>T (p.Tyr396=) rs151106018
NM_007074.4(CORO1A):c.1192C>T (p.Pro398Ser) rs2073374467
NM_007074.4(CORO1A):c.1195C>T (p.Pro399Ser)
NM_007074.4(CORO1A):c.1204C>A (p.Arg402=) rs150186033
NM_007074.4(CORO1A):c.1204C>T (p.Arg402Trp) rs150186033
NM_007074.4(CORO1A):c.1210C>G (p.Leu404Val)
NM_007074.4(CORO1A):c.1212G>A (p.Leu404=)
NM_007074.4(CORO1A):c.1212G>C (p.Leu404=) rs1180511300
NM_007074.4(CORO1A):c.1218C>T (p.Val406=)
NM_007074.4(CORO1A):c.1233C>T (p.Asp411=)
NM_007074.4(CORO1A):c.1234A>G (p.Thr412Ala)
NM_007074.4(CORO1A):c.1247G>A (p.Arg416Lys) rs1555491117
NM_007074.4(CORO1A):c.1249dup (p.Ala417fs)
NM_007074.4(CORO1A):c.1251A>G (p.Ala417=)
NM_007074.4(CORO1A):c.1269C>T (p.Gly423=)
NM_007074.4(CORO1A):c.1281G>A (p.Ser427=) rs2073377701
NM_007074.4(CORO1A):c.128A>G (p.Asn43Ser) rs917206144
NM_007074.4(CORO1A):c.129C>T (p.Asn43=)
NM_007074.4(CORO1A):c.147G>A (p.Leu49=)
NM_007074.4(CORO1A):c.186G>C (p.Leu62=)
NM_007074.4(CORO1A):c.188C>G (p.Pro63Arg)
NM_007074.4(CORO1A):c.195_198+13dup
NM_007074.4(CORO1A):c.198+13G>C
NM_007074.4(CORO1A):c.198+20G>C
NM_007074.4(CORO1A):c.198+3G>A
NM_007074.4(CORO1A):c.199-10G>A rs755864918
NM_007074.4(CORO1A):c.199-15C>T
NM_007074.4(CORO1A):c.199-18G>A rs1209635665
NM_007074.4(CORO1A):c.199-20A>T
NM_007074.4(CORO1A):c.19C>T (p.Arg7Cys)
NM_007074.4(CORO1A):c.205C>T (p.Arg69Cys) rs2073337013
NM_007074.4(CORO1A):c.221C>T (p.Ala74Val)
NM_007074.4(CORO1A):c.228G>A (p.Thr76=) rs781250172
NM_007074.4(CORO1A):c.23C>T (p.Ser8Phe) rs763479989
NM_007074.4(CORO1A):c.248_249del (p.Pro83fs) rs606231246
NM_007074.4(CORO1A):c.249T>A (p.Pro83=)
NM_007074.4(CORO1A):c.249T>C (p.Pro83=)
NM_007074.4(CORO1A):c.249T>G (p.Pro83=)
NM_007074.4(CORO1A):c.255A>G (p.Leu85=)
NM_007074.4(CORO1A):c.255A>T (p.Leu85=)
NM_007074.4(CORO1A):c.259A>G (p.Ile87Val) rs2151062377
NM_007074.4(CORO1A):c.263C>G (p.Ala88Gly) rs2073337779
NM_007074.4(CORO1A):c.273G>T (p.Pro91=) rs141844867
NM_007074.4(CORO1A):c.303C>T (p.Ser101=)
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs) rs2151062416
NM_007074.4(CORO1A):c.321+14G>A rs1596918002
NM_007074.4(CORO1A):c.321+15G>T
NM_007074.4(CORO1A):c.321+5G>A
NM_007074.4(CORO1A):c.321G>A (p.Met107Ile)
NM_007074.4(CORO1A):c.322-14C>A
NM_007074.4(CORO1A):c.322-5T>C
NM_007074.4(CORO1A):c.333C>A (p.Ile111=) rs767834047
NM_007074.4(CORO1A):c.339T>G (p.Asp113Glu) rs2073340380
NM_007074.4(CORO1A):c.350T>C (p.Met117Thr)
NM_007074.4(CORO1A):c.352C>T (p.Leu118=)
NM_007074.4(CORO1A):c.35G>T (p.Arg12Leu)
NM_007074.4(CORO1A):c.365A>G (p.Glu122Gly) rs2151062494
NM_007074.4(CORO1A):c.367C>A (p.Pro123Thr) rs201721540
NM_007074.4(CORO1A):c.370G>A (p.Val124Ile) rs775411755
NM_007074.4(CORO1A):c.373G>T (p.Val125Phe) rs143294920
NM_007074.4(CORO1A):c.374T>C (p.Val125Ala) rs2151062508
NM_007074.4(CORO1A):c.39C>T (p.His13=)
NM_007074.4(CORO1A):c.400G>A (p.Val134Met) rs397514755
NM_007074.4(CORO1A):c.42G>C (p.Val14=) rs754614186
NM_007074.4(CORO1A):c.435C>G (p.Asn145Lys) rs762584647
NM_007074.4(CORO1A):c.451+11A>G
NM_007074.4(CORO1A):c.451+16G>A
NM_007074.4(CORO1A):c.451+7C>G
NM_007074.4(CORO1A):c.452-12G>C
NM_007074.4(CORO1A):c.452-14_452-13del rs779167045
NM_007074.4(CORO1A):c.460_462del (p.Asn154del) rs1419951155
NM_007074.4(CORO1A):c.471G>T (p.Met157Ile)
NM_007074.4(CORO1A):c.494C>T (p.Ala165Val)
NM_007074.4(CORO1A):c.517G>T (p.Glu173Ter)
NM_007074.4(CORO1A):c.534G>A (p.Thr178=)
NM_007074.4(CORO1A):c.54G>A (p.Pro18=) rs61736363
NM_007074.4(CORO1A):c.63C>A (p.Ala21=)
NM_007074.4(CORO1A):c.757-15C>A rs2151063033
NM_007074.4(CORO1A):c.757-16T>G rs2151063032
NM_007074.4(CORO1A):c.757-17_757-16insGA rs2151063030
NM_007074.4(CORO1A):c.757-18T>C
NM_007074.4(CORO1A):c.760C>T (p.His254Tyr)
NM_007074.4(CORO1A):c.764T>C (p.Leu255Pro) rs1416150566
NM_007074.4(CORO1A):c.768G>A (p.Glu256=) rs2151063049
NM_007074.4(CORO1A):c.773C>T (p.Pro258Leu) rs2151063054
NM_007074.4(CORO1A):c.781C>T (p.Leu261=) rs2151063062
NM_007074.4(CORO1A):c.795C>T (p.Asp265=) rs2151063067
NM_007074.4(CORO1A):c.82G>A (p.Val28Met)
NM_007074.4(CORO1A):c.843C>T (p.Ile281=) rs199650298
NM_007074.4(CORO1A):c.855_856del (p.Cys285fs) rs2151063096
NM_007074.4(CORO1A):c.861+10T>C
NM_007074.4(CORO1A):c.861+12G>A
NM_007074.4(CORO1A):c.861+14G>A rs2151063106
NM_007074.4(CORO1A):c.861+24_861+29del rs1376852495
NM_007074.4(CORO1A):c.861+9G>A
NM_007074.4(CORO1A):c.862-14C>A rs373178145
NM_007074.4(CORO1A):c.862-15A>C rs2151063206
NM_007074.4(CORO1A):c.862-7C>T
NM_007074.4(CORO1A):c.868A>T (p.Ser290Cys) rs1185423790
NM_007074.4(CORO1A):c.878G>A (p.Arg293Gln)
NM_007074.4(CORO1A):c.882C>T (p.Tyr294=)
NM_007074.4(CORO1A):c.903C>T (p.Ala301=)
NM_007074.4(CORO1A):c.915C>T (p.His305=)
NM_007074.4(CORO1A):c.954C>A (p.Gly318=)
NM_007074.4(CORO1A):c.954C>G (p.Gly318=)
NM_007074.4(CORO1A):c.958G>A (p.Gly320Ser) rs2151063251
NM_007074.4(CORO1A):c.969C>A (p.Pro323=) rs1555490997
NM_007074.4(CORO1A):c.973C>T (p.Arg325Cys) rs757576567
NM_007074.4(CORO1A):c.974G>A (p.Arg325His) rs1218173437

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