ClinVar Miner

List of variants reported as likely pathogenic for Arthrogryposis, distal, type 1A by Invitae

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.26A>C (p.Gln9Pro) rs1554659746
NM_003289.4(TPM2):c.360TGA[1] (p.Asp121del) rs1554658995
NM_003289.4(TPM2):c.364G>A (p.Glu122Lys) rs2131853219
NM_003289.4(TPM2):c.382A>G (p.Lys128Glu) rs1563929143
NM_003289.4(TPM2):c.41A>T (p.Asp14Val) rs1825151618
NM_003289.4(TPM2):c.479G>T (p.Arg160Leu)
NM_003289.4(TPM2):c.493-2A>G rs2131851980
NM_003289.4(TPM2):c.606C>A (p.Asn202Lys) rs137853307

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