List of variants reported as pathogenic for syndrome caused by partial chromosomal deletion by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1
GRCh38/hg38 17q12(chr17:36486532-37745203)x1
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1
NM_001002295.2(GATA3):c.708dup (p.Ser237fs)	rs771019738
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
Single allele

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