List of variants studied for congenital limb malformation by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)	rs144291418	0.00063
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys)	rs201202896	0.00051
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	rs80358721	0.00004
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln)	rs371923881	0.00003
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)	rs556002453	0.00002
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	rs79184941
NM_000751.3(CHRND):c.1374_1375del (p.Lys459fs)	rs1060499782
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro)	rs147205530
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)	rs760848629
Single allele

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