ClinVar Miner

List of variants in gene ADA2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001282225.2(ADA2):c.1386T>C (p.Ile462=) rs373797039 0.00051
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp) rs61738625 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299 0.00013
NM_001282225.2(ADA2):c.147G>A (p.Arg49=) rs146125672 0.00013
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001282225.2(ADA2):c.702G>A (p.Glu234=) rs528271447 0.00005
NM_001282225.2(ADA2):c.460C>T (p.Arg154Cys) rs200153182 0.00002
NM_001282225.2(ADA2):c.1146C>T (p.Ile382=) rs776302859 0.00001
NM_001282225.2(ADA2):c.500A>G (p.Asp167Gly) rs745559968 0.00001
GRCh37/hg19 22q11.1(chr22:17669229-17669337)x1
GRCh37/hg19 22q11.1(chr22:17670832-17680468)x0
NM_001282225.2(ADA2):c.1071C>T (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1090G>C (p.Gly364Arg)
NM_001282225.2(ADA2):c.1223G>A (p.Cys408Tyr)
NM_001282225.2(ADA2):c.138G>T (p.Leu46=) rs7289141
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.1497G>A (p.Lys499=) rs2123598853
NM_001282225.2(ADA2):c.179A>G (p.Asn60Ser) rs878901507
NM_001282225.2(ADA2):c.22G>A (p.Glu8Lys) rs914839065
NM_001282225.2(ADA2):c.608T>G (p.Val203Gly)
NM_001282225.2(ADA2):c.620T>C (p.Phe207Ser) rs1292778015
NM_001282225.2(ADA2):c.753+4307C>T
NM_001282225.2(ADA2):c.753+4324T>C
NM_001282225.2(ADA2):c.87C>T (p.Ser29=)

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.