ClinVar Miner

List of variants reported as likely pathogenic for 3M syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014780.5(CUL7):c.1563_1569+5del	rs2532713532
NM_014780.5(CUL7):c.1838del (p.Pro613fs)	rs2532699127
NM_014780.5(CUL7):c.1972C>T (p.Gln658Ter)

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