List of variants reported as likely pathogenic for congenital radioulnar synostosis by The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005585.5(SMAD6):c.791A>G (p.Tyr264Cys)	rs750855608	0.00001
NM_004991.4(MECOM):c.2893C>G (p.Gln965Glu)	rs2148891074
NM_004991.4(MECOM):c.2906G>T (p.Arg969Leu)	rs2148891008
NM_004991.4(MECOM):c.2912T>C (p.Ile971Thr)	rs2148890956
NM_005585.5(SMAD6):c.1410G>C (p.Lys470Asn)	rs1363576646
NM_005585.5(SMAD6):c.263_264delinsT (p.Gly88fs)	rs1595756703
NM_005585.5(SMAD6):c.38T>A (p.Leu13His)	rs1893016936
NM_005585.5(SMAD6):c.461G>A (p.Gly154Asp)	rs1595756962
NM_005585.5(SMAD6):c.465_471dup (p.Ser158fs)	rs958818801
NM_005585.5(SMAD6):c.590C>A (p.Ser197Tyr)	rs1893041246

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