ClinVar Miner

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

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.536C>T (p.Ser179Leu) rs150120234 0.00017
NM_003289.4(TPM2):c.230A>G (p.Lys77Arg) rs1486146333 0.00001
NM_003289.4(TPM2):c.248C>T (p.Ala83Val) rs770922057 0.00001
NM_003289.4(TPM2):c.436A>G (p.Met146Val) rs764320619 0.00001
NM_003289.4(TPM2):c.679C>G (p.Leu227Val) rs779397499 0.00001
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_35683146)_(36277049_?)dup
NC_000009.11:g.(?_35683156)_(35689814_?)dup
NC_000009.12:g.(?_35683149)_(35689827_?)dup
NM_003289.4(TPM2):c.104G>T (p.Arg35Leu)
NM_003289.4(TPM2):c.14AGA[1] (p.Lys6_Lys7del)
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.4(TPM2):c.196G>A (p.Glu66Lys)
NM_003289.4(TPM2):c.220G>A (p.Ala74Thr)
NM_003289.4(TPM2):c.240T>C (p.Asp80=)
NM_003289.4(TPM2):c.272G>A (p.Arg91His)
NM_003289.4(TPM2):c.301C>T (p.Arg101Trp)
NM_003289.4(TPM2):c.302G>A (p.Arg101Gln) rs2131853430
NM_003289.4(TPM2):c.302G>C (p.Arg101Pro)
NM_003289.4(TPM2):c.314G>A (p.Arg105His)
NM_003289.4(TPM2):c.341AGG[1] (p.Glu115del) rs1554659007
NM_003289.4(TPM2):c.345G>C (p.Glu115Asp) rs2131853306
NM_003289.4(TPM2):c.356C>T (p.Ala119Val)
NM_003289.4(TPM2):c.362A>T (p.Asp121Val) rs1824862680
NM_003289.4(TPM2):c.374+3G>A
NM_003289.4(TPM2):c.374+9G>A
NM_003289.4(TPM2):c.379A>G (p.Met127Val)
NM_003289.4(TPM2):c.388_390dup (p.Ile130dup) rs1824851546
NM_003289.4(TPM2):c.391G>A (p.Glu131Lys)
NM_003289.4(TPM2):c.398G>C (p.Arg133Pro) rs199476152
NM_003289.4(TPM2):c.428T>A (p.Leu143Gln) rs1824848681
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) rs1563929039
NM_003289.4(TPM2):c.464C>T (p.Ala155Val) rs1824846097
NM_003289.4(TPM2):c.470A>G (p.Asp157Gly)
NM_003289.4(TPM2):c.485A>T (p.Tyr162Phe)
NM_003289.4(TPM2):c.52G>A (p.Ala18Thr)
NM_003289.4(TPM2):c.533G>T (p.Arg178Leu) rs765802464
NM_003289.4(TPM2):c.562A>T (p.Ser188Cys)
NM_003289.4(TPM2):c.563+15G>T
NM_003289.4(TPM2):c.564-19_564-18insA
NM_003289.4(TPM2):c.565A>G (p.Lys189Glu) rs2131849903
NM_003289.4(TPM2):c.577C>G (p.Leu193Val)
NM_003289.4(TPM2):c.58G>C (p.Asp20His)
NM_003289.4(TPM2):c.635A>G (p.Asp212Gly) rs1554658784
NM_003289.4(TPM2):c.639+6G>C
NM_003289.4(TPM2):c.643T>G (p.Ser215Ala)
NM_003289.4(TPM2):c.653A>C (p.Glu218Ala)
NM_003289.4(TPM2):c.719A>G (p.Glu240Gly)
NM_003289.4(TPM2):c.727G>A (p.Glu243Lys)
NM_003289.4(TPM2):c.743A>T (p.Lys248Met)
NM_003289.4(TPM2):c.757A>G (p.Ile253Val) rs1476739780
NM_003289.4(TPM2):c.781T>C (p.Tyr261His)
NM_003289.4(TPM2):c.829G>A (p.Ala277Thr)
NM_003289.4(TPM2):c.830C>T (p.Ala277Val) rs1824673399
NM_003289.4(TPM2):c.832C>T (p.Leu278Phe)

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