List of variants reported as pathogenic for congenital limb malformation by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)	rs775011495	0.00001
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)	rs539460201
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	rs772470710
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)	rs1597228568
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	rs104894537
NM_004826.4(ECEL1):c.2151+2T>A	rs762979130
NM_006265.3(RAD21):c.3G>A (p.Met1Ile)	rs1586276006
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs)	rs1602410239
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr)	rs1556885810
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)	rs1555945816
NM_181486.4(TBX5):c.1158dup (p.Ser387fs)	rs1064795870
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)	rs863223788

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