ClinVar Miner

List of variants in gene CORO1A reported as likely benign 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: 121
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HGVS dbSNP gnomAD frequency
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.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.792G>A (p.Leu264=) rs139024575 0.00022
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.1251A>C (p.Ala417=) rs754103097 0.00009
NM_007074.4(CORO1A):c.837C>T (p.Thr279=) rs113875403 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.1007+13C>T rs201613058 0.00004
NM_007074.4(CORO1A):c.1066-7C>T rs767306235 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.757-10G>C rs367708753 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.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.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.237C>T (p.Gly79=) rs201766395 0.00001
NM_007074.4(CORO1A):c.261C>T (p.Ile87=) rs763085431 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.480C>T (p.Asp160=) rs1445453106 0.00001
NM_007074.4(CORO1A):c.57C>T (p.Ala19=) rs1032858184 0.00001
NM_007074.4(CORO1A):c.936C>T (p.Ser312=) rs148629867 0.00001
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+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.1065+13C>T
NM_007074.4(CORO1A):c.1065+15C>T
NM_007074.4(CORO1A):c.1066-13G>A
NM_007074.4(CORO1A):c.1068G>C (p.Ser356=)
NM_007074.4(CORO1A):c.1089G>A (p.Leu363=)
NM_007074.4(CORO1A):c.1098C>T (p.Pro366=)
NM_007074.4(CORO1A):c.1122C>A (p.Leu374=)
NM_007074.4(CORO1A):c.1134G>A (p.Glu378=)
NM_007074.4(CORO1A):c.1161C>G (p.Pro387=) rs375181897
NM_007074.4(CORO1A):c.1188C>T (p.Tyr396=) rs151106018
NM_007074.4(CORO1A):c.1204C>A (p.Arg402=) rs150186033
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.1251A>G (p.Ala417=)
NM_007074.4(CORO1A):c.1269C>T (p.Gly423=)
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.198+13G>C
NM_007074.4(CORO1A):c.198+20G>C
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.228G>A (p.Thr76=) rs781250172
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.273G>T (p.Pro91=) rs141844867
NM_007074.4(CORO1A):c.303C>T (p.Ser101=)
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.352C>T (p.Leu118=)
NM_007074.4(CORO1A):c.42G>C (p.Val14=) rs754614186
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.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.768G>A (p.Glu256=) rs2151063049
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.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.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.969C>A (p.Pro323=) rs1555490997

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