List of variants studied for chromosomal disorder by Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1
GRCh37/hg19 15q11.2(chr15:22765628-23217514)x1
GRCh37/hg19 15q14(chr15:33809650-40027263)x1
GRCh37/hg19 16p11.2(chr16:29674336-30198123)x1
GRCh37/hg19 16p11.2(chr16:29674336-30199351)x1
GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1
GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1
GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3
GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1
GRCh37/hg19 5q22.2(chr5:112155123-112174165)x1
GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3
GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1

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