List of variants reported as pathogenic for congenital limb malformation by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_001018115.3(FANCD2):c.2715+1G>A	rs201811817	0.00016
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000059.4(BRCA2):c.631+2T>G	rs81002899	0.00001
NM_004629.2(FANCG):c.85-2A>T	rs759590778	0.00001
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer)	rs2059050320

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