List of variants reported as pathogenic for Arthrogryposis, distal, type 1A by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003289.4(TPM2):c.70C>T (p.Gln24Ter)	rs201987709	0.00001
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	rs137853306
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	rs199476146
NM_003289.4(TPM2):c.220del (p.Ala74fs)
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	rs104894129
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)	rs137853305
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	rs199476153
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)	rs1563929039
NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter)	rs1465836003

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