ClinVar Miner

List of variants reported as pathogenic for DiGeorge syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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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(chr22:18661724-21505417)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(chr22:18900755-21800277)
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
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
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_000022.11: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
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.1252G>T (p.Glu418Ter)
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.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

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