List of variants reported as likely pathogenic for congenital limb malformation by Genome-Nilou Lab

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter)	rs1829085768
NM_004629.2(FANCG):c.842del (p.Pro281fs)	rs2131055994
NM_016277.5(RAB23):c.559del (p.Ser187fs)	rs2127997645
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380
NM_133433.4(NIPBL):c.65-5A>G	rs587784012
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)	rs587784020
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)	rs587784023
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)	rs587784024
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)	rs587784030
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036

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