List of variants reported as pathogenic for congenital limb malformation by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	rs139073416	0.00014
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_001374353.1(GLI2):c.1555G>T (p.Glu519Ter)	rs1682776554
NM_001374353.1(GLI2):c.2283del (p.Ala763fs)	rs2105084620
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)	rs1563929039
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)	rs996949678
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)	rs1384748892
NM_005850.5(SF3B4):c.417C>T (p.Gly139=)
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)	rs80357522
NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys)	rs879255232
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380

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