List of variants studied for congenital limb malformation by Istanbul Faculty of Medicine, Istanbul University

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	rs191943709	0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	rs761584017	0.00001
NM_021922.3(FANCE):c.1509+1G>A	rs745877509	0.00001
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)	rs1158456786
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys)	rs769203048
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)	rs1363946483
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)	rs1310756192
NM_000135.4(FANCA):c.2504+3G>A	rs2039260426
NM_000135.4(FANCA):c.2504+5G>T	rs2039260372
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)	rs2143288874
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro)	rs2038841366
NM_000135.4(FANCA):c.495del (p.Phe166fs)	rs2143677288
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)	rs1598173112
NM_001113525.2(ZNF276):c.*1314C>T	rs2062071481
NM_001164508.2(NEB):c.14911G>A (p.Ala4971Thr)
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])	rs377452683
NM_001164508.2(NEB):c.21936_21940del (p.Ile7312fs)
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)
NM_022725.4(FANCF):c.283_284del (p.Leu95fs)	rs2133798188
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)	rs2078112057

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