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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del
NC_000022.10:g.(?_21797384)_(23630313_?)del
NC_000022.10:g.21514655_22986816del
NC_000022.10:g.21808950_22963000del1154051
Single allele

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