ClinVar Miner

List of variants reported as pathogenic for chromosome 22q deletion

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
GRCh37/hg19 22p13(chr22:135350-150557)x1
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1
GRCh37/hg19 22q11.21(chr22:18644790-21798907)
GRCh37/hg19 22q11.21(chr22:18644790-21800471)
GRCh37/hg19 22q11.21(chr22:18645353-21800797)
GRCh37/hg19 22q11.21(chr22:18648866-21798907)
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
GRCh37/hg19 22q11.21(chr22:18893344-21650280)
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
GRCh37/hg19 22q11.21(chr22:18916842-21798907)
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del
NC_000022.10:g.(?_18900668)_(19747220_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18900688)_(21351637_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.10:g.(?_19163623)_(19770565_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)del
NC_000022.10:g.(?_19747167)_(19754390_?)del
NC_000022.10:g.(?_19748454)_19748649del
NC_000022.10:g.(?_21797384)_(23630313_?)del
NC_000022.10:g.21514655_22986816del
NC_000022.10:g.21808950_22963000del1154051
NC_000022.11:g.(?_19722428)_(19975757_?)del
NC_000022.11:g.(?_19755901)_(19759687_?)del
NC_000022.11:g.(?_19755901)_(19766877_?)del
NC_000022.11:g.(?_19755901)_(19783042_?)del
NC_000022.11:g.(?_19755950)_(19759697_?)del
NC_000022.11:g.18948676_21110520del
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter) rs1936845711
NM_001379200.1(TBX1):c.1117del (p.Leu373fs) rs2145838229
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) rs1936852915
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
NM_001379200.1(TBX1):c.1250del (p.Ser417fs) rs1601294362
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter) rs2145827917
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs) rs2145827929
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) rs1936640897
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) rs1555895466
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) rs28939675
NM_001379200.1(TBX1):c.609C>G (p.His203Gln) rs74315522
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs) rs2145835194
NM_001379200.1(TBX1):c.881del (p.Lys294fs) rs2145836457
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) rs1936634853
NM_080647.1:g.(?_19241636)_(21349222_?)del
Single allele

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.