ClinVar Miner

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

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Total variants: 8
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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.663T>A (p.Tyr221Ter) rs1465836003

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