List of variants reported as likely pathogenic for MEGF8-related Carpenter syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001271938.2(MEGF8):c.1784_1788+3del
NM_001271938.2(MEGF8):c.3351-2A>C	rs2039397653
NM_001271938.2(MEGF8):c.3761+2T>C
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys)	rs2039109372
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del)	rs775004286

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