ClinVar Miner

List of variants reported as pathogenic for 22q11.2 deletion syndrome

Included ClinVar conditions (4):
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Total variants: 19
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HGVS dbSNP
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
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(chr22:18918741-20311922)
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.11:g.(?_19722428)_(19975757_?)del
NC_000022.11:g.(?_19755901)_(19783042_?)del
NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) rs1555895466
NM_080647.1(TBX1):c.582C>G (p.His194Gln) rs74315522
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838
TBX1, 23-BP DEL, NT1320

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