List of variants reported as pathogenic for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)	rs121908736	0.00081
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	rs114025668	0.00030
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00021
NM_000022.4(ADA):c.221G>T (p.Gly74Val)	rs199422328	0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)	rs121908738	0.00007
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)	rs121908737	0.00006
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)	rs121908723	0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000022.4(ADA):c.478+1G>A	rs761242509	0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	rs121908718	0.00003
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)	rs749484894	0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met)	rs121908719	0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)	rs79281338	0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	rs199422327	0.00002
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)	rs780014431	0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His)	rs121908722	0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)	rs121908727	0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	rs121908724	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000022.4(ADA):c.678+5G>C	rs763478578	0.00001
NM_000022.4(ADA):c.845+1G>C	rs766590645	0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	rs751635016	0.00001
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
NC_000020.10:g.(?_43248475)_(43280248_?)del
NC_000020.10:g.(?_43251625)_(43255215_?)del
NC_000020.10:g.(?_43252823)_(43255260_?)del
NC_000020.10:g.(?_43264848)_(43264949_?)del
NC_000020.11:g.(?_44636217)_(44636298_?)del
NC_000020.11:g.(?_44651555)_(44651627_?)del
NC_000020.11:g.44649961_44653216del
NM_000022.2(ADA):c.[290A>G;316C>G]
NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)
NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)
NM_000022.4(ADA):c.1019del (p.Lys340fs)
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)	rs2065317387
NM_000022.4(ADA):c.1024G>T (p.Glu342Ter)	rs2123507871
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	rs1419063255
NM_000022.4(ADA):c.219-2A>G	rs387906267
NM_000022.4(ADA):c.2T>G (p.Met1Arg)
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)	rs121908714
NM_000022.4(ADA):c.302G>T (p.Arg101Leu)	rs121908714
NM_000022.4(ADA):c.306C>G (p.Tyr102Ter)	rs149520391
NM_000022.4(ADA):c.307del (p.Ser103fs)
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)	rs1452483770
NM_000022.4(ADA):c.33+1G>A	rs587776534
NM_000022.4(ADA):c.33+1G>C	rs587776534
NM_000022.4(ADA):c.33+2_33+104del	rs2145366792
NM_000022.4(ADA):c.337G>T (p.Glu113Ter)	rs1275500780
NM_000022.4(ADA):c.34-11_55del	rs1230022655
NM_000022.4(ADA):c.366_367del (p.Asp123fs)	rs758073965
NM_000022.4(ADA):c.367del (p.Asp123fs)	rs758073965
NM_000022.4(ADA):c.383_404dup (p.Leu137fs)	rs1555844616
NM_000022.4(ADA):c.385G>A (p.Val129Met)	rs121908731
NM_000022.4(ADA):c.394del (p.Ala131_Leu132insTer)
NM_000022.4(ADA):c.396dup (p.Val133fs)	rs1555844617
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
NM_000022.4(ADA):c.421G>T (p.Glu141Ter)	rs1199690825
NM_000022.4(ADA):c.447del (p.Ser150fs)
NM_000022.4(ADA):c.467G>T (p.Arg156Leu)	rs121908722
NM_000022.4(ADA):c.478+6T>A	rs1555844600
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
NM_000022.4(ADA):c.49del (p.His17fs)
NM_000022.4(ADA):c.507dup (p.Lys170Ter)
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	rs748810619
NM_000022.4(ADA):c.517del (p.Gln173fs)
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	rs886041796
NM_000022.4(ADA):c.532dup (p.Val178fs)	rs886041796
NM_000022.4(ADA):c.577dup (p.Leu193fs)	rs759445496
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	rs1555844395
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)	rs1555844395
NM_000022.4(ADA):c.645_648dup (p.Glu217fs)	rs2065348171
NM_000022.4(ADA):c.690dup (p.Leu231fs)	rs2065346614
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)	rs121908729
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	rs778809577
NM_000022.4(ADA):c.705del (p.Leu236fs)	rs1225623204
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.760C>T (p.Gln254Ter)	rs2065345592
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG	rs2123516908
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)	rs757796081
NM_000022.4(ADA):c.7C>T (p.Gln3Ter)	rs1057520217
NM_000022.4(ADA):c.845+2T>C	rs2123516572
NM_000022.4(ADA):c.854dup (p.Asn285fs)	rs2123511347
NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)
NM_000022.4(ADA):c.870C>A (p.Tyr290Ter)	rs2065327638
NM_000022.4(ADA):c.879_898del (p.Thr294fs)	rs2065327187
NM_000022.4(ADA):c.95+1G>A	rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000022.4(ADA):c.970del (p.Arg324fs)	rs2065325961
NM_000022.4(ADA):c.975+1G>A	rs2065325898
NM_000022.4(ADA):c.975+2T>C
NM_000022.4(ADA):c.975+2T>G
NM_000022.4(ADA):c.976-1G>C
NM_000022.4(ADA):c.976-2A>G
NM_000022.4(ADA):c.996_997del (p.Ser333fs)	rs2123508053
NM_000022.4(ADA):c.[455T>C;478+6T>C]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.