List of variants reported as likely pathogenic for chromosomal disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)	rs796052724
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe)	rs1057516048
NM_078480.3(PUF60):c.436C>T (p.Arg146Cys)	rs2130257405
NM_078480.3(PUF60):c.803_809del (p.Gly268fs)	rs2130244708

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