ClinVar Miner

List of variants in gene combination CORO1A, LOC121587541 reported as likely benign for T-B+ severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_007074.4(CORO1A):c.720C>T (p.Ser240=) rs749622934 0.00008
NM_007074.4(CORO1A):c.636+8G>A rs375950115 0.00002
NM_007074.4(CORO1A):c.597C>T (p.Arg199=) rs531482387 0.00001
NM_007074.4(CORO1A):c.654C>T (p.His218=) rs772017896 0.00001
NM_007074.4(CORO1A):c.729T>C (p.Ser243=) rs2073354742 0.00001
NM_007074.4(CORO1A):c.747G>A (p.Leu249=) rs772251544 0.00001
NM_007074.4(CORO1A):c.546G>A (p.Val182=) rs2151062652
NM_007074.4(CORO1A):c.582C>A (p.Ser194=)
NM_007074.4(CORO1A):c.609C>T (p.Ile203=)
NM_007074.4(CORO1A):c.615C>T (p.Pro205=)
NM_007074.4(CORO1A):c.630C>T (p.Val210=) rs139989282
NM_007074.4(CORO1A):c.636+15_636+17del
NM_007074.4(CORO1A):c.636+18C>T
NM_007074.4(CORO1A):c.636+20G>A
NM_007074.4(CORO1A):c.636+7C>T
NM_007074.4(CORO1A):c.636+9C>T rs1596919212
NM_007074.4(CORO1A):c.637-14C>T rs1383576912
NM_007074.4(CORO1A):c.672G>C (p.Val224=)
NM_007074.4(CORO1A):c.684C>T (p.Phe228=)
NM_007074.4(CORO1A):c.696G>A (p.Gly232=) rs1375696589
NM_007074.4(CORO1A):c.711G>A (p.Thr237=)
NM_007074.4(CORO1A):c.735G>A (p.Arg245=)
NM_007074.4(CORO1A):c.744G>A (p.Ala248=)
NM_007074.4(CORO1A):c.756+11G>A rs760892904
NM_007074.4(CORO1A):c.756+12G>A rs776430488

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