List of variants studied for congenital limb malformation by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)	rs199587570	0.00003
NM_000136.3(FANCC):c.166-2A>G	rs587777945	0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	rs121912670	0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)	rs761291501	0.00001
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
GRCh37/hg19 17q21.31(chr17:42929777-42937911)
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)	rs786201916
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)	rs863224827
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)	rs2041102320
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)	rs1064797002
NM_001999.4(FBN2):c.3778T>C (p.Ser1260Pro)
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr)	rs2106221995
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)	rs1567855132
NM_133433.4(NIPBL):c.8299A>G (p.Lys2767Glu)	rs2149761150
NM_133433.4(NIPBL):c.8384T>C (p.Leu2795Pro)	rs2149761303

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