ClinVar Miner

List of variants in gene TPM2 reported as uncertain significance for arthrogryposis, distal, type 1A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.*194C>T rs561175276 0.00068
NM_213674.1(TPM2):c.-238C>T rs886063908 0.00020
NM_003289.4(TPM2):c.536C>T (p.Ser179Leu) rs150120234 0.00017
NM_213674.1(TPM2):c.-158C>A rs886063907 0.00014
NM_003289.4(TPM2):c.*25A>C rs781513152 0.00012
NM_003289.4(TPM2):c.*99A>G rs879505630 0.00007
NM_003289.4(TPM2):c.-10C>A rs372751531 0.00006
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_003289.4(TPM2):c.*199C>T rs965743785 0.00002
NM_003289.4(TPM2):c.773-3C>A rs199476157 0.00002
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.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003289.4(TPM2):c.679C>G (p.Leu227Val) rs779397499 0.00001
NC_000009.11:g.(?_35683156)_(35689814_?)dup
NC_000009.12:g.(?_35683149)_(35689827_?)dup
NM_003289.4(TPM2):c.*22C>A rs1824669468
NM_003289.4(TPM2):c.-92C>T rs886063906
NM_003289.4(TPM2):c.104G>T (p.Arg35Leu)
NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle)
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.569G>A (p.Cys190Tyr) rs1369077598
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.760G>A (p.Asp254Asn) rs1419786293
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)
NM_213674.1(TPM2):c.-118G>A rs986048371
NM_213674.1(TPM2):c.-142C>T rs1825166266
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.