List of variants reported as pathogenic for chromosomal disorder by Illumina Laboratory Services, Illumina

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000057.4(BLM):c.2206dup (p.Tyr736fs)	rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter)	rs1330378388
NM_001372044.2(SHANK3):c.4703_4704del (p.Val1568fs)
NM_022455.5(NSD1):c.5304-2A>G
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)	rs762292772

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