ClinVar Miner

List of variants reported as likely pathogenic for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.2:c.785_786ins5 rs757796081
NM_000022.3(ADA):c.[780+1G>A];[986C>T]
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.218+1G>A rs528390681
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.219-1G>A rs751147673
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) rs1555844616
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.44A>T (p.His15Leu)
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.479-2del
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.845+1G>C rs766590645
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) rs199474676
NM_000448.2(RAG1):c.2326C>T (p.Arg776Trp) rs121918572
NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter)
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu)
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648

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