List of variants reported as pathogenic for chromosomal disorder by Centogene AG - the Rare Disease Company

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000011.9:g.104288964_134937416dup
NC_000022.10:g.21514655_22986816del
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)	rs367543029
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)	rs1299932363
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)	rs762292772

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