List of variants reported as pathogenic for chromosomal disorder by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)
GRCh38/hg38 7q11.23(chr7:73229597-74727852)
NM_001002295.2(GATA3):c.404dup (p.Ala136fs)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	rs770374710
NM_022455.5(NSD1):c.2362del (p.Arg788fs)
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)	rs1131692232
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter)	rs1816565787

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