List of variants reported as pathogenic for chromosomal disorder by New York Genome Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)
NC_000001.10:g.4481271_20530242del
NC_000007.14:g.(75058300_?)_(?_79083658)del
NC_000015.10:g.22698177_(23120963_23380983)del
NC_000015.10:g.22804175_30375696dup
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
Single allele

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