ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to ADA deficiency by Counsyl

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Total variants: 47
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HGVS dbSNP
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.1078+2T>A rs1555843178
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer) rs1555843039
NM_000022.4(ADA):c.218+1G>A rs528390681
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.218+2dup rs1555845122
NM_000022.4(ADA):c.219-1G>A rs751147673
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
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.424C>T (p.Arg142Ter) rs780014431
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
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.467G>T (p.Arg156Leu) rs121908722
NM_000022.4(ADA):c.478+1G>A rs761242509
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.479-3_479-2del rs1555844457
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.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
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.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
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.715G>A (p.Gly239Ser) rs777820729
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG rs781605283
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) rs757796081
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.845+1G>C rs766590645
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745

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