List of variants studied for congenital limb malformation by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.226-2dup	rs774388631	0.00013
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser)	rs374502005	0.00001
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)	rs137853038
NM_001429.4(EP300):c.4172+5del
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
NM_004247.4(EFTUD2):c.426+1dup
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met)	rs2054819160
NM_004380.3(CREBBP):c.758A>G (p.His253Arg)	rs142268920
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu)	rs2053548814
NM_133433.4(NIPBL):c.432A>C (p.Gln144His)

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