ClinVar Miner

List of variants in gene TPM2 reported as likely benign for Arthrogryposis, distal, type 1A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.374+15C>T rs773380766 0.00018
NM_003289.4(TPM2):c.633G>A (p.Ala211=) rs199758432 0.00016
NM_003289.4(TPM2):c.846C>A (p.Thr282=) rs148516241 0.00016
NM_003289.4(TPM2):c.18G>A (p.Lys6=) rs144658309 0.00015
NM_003289.4(TPM2):c.773-19C>T rs111370399 0.00009
NM_003289.4(TPM2):c.225G>A (p.Glu75=) rs375762242 0.00006
NM_003289.4(TPM2):c.357G>A (p.Ala119=) rs376028030 0.00006
NM_003289.4(TPM2):c.374+16G>A rs769858878 0.00006
NM_003289.4(TPM2):c.564-18_564-17insA rs1554658810 0.00005
NM_003289.4(TPM2):c.773-10_773-9insG rs780351083 0.00005
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_003289.4(TPM2):c.75C>T (p.Ala25=) rs138151922 0.00004
NM_003289.4(TPM2):c.189C>T (p.Ser63=) rs768912812 0.00003
NM_003289.4(TPM2):c.241-7C>A rs759898332 0.00003
NM_003289.4(TPM2):c.563+12C>T rs185397376 0.00003
NM_003289.4(TPM2):c.564-19C>G rs1374322376 0.00003
NM_003289.4(TPM2):c.618C>A (p.Ser206=) rs370079073 0.00003
NM_003289.4(TPM2):c.399G>A (p.Arg133=) rs370635046 0.00002
NM_003289.4(TPM2):c.639+10A>G rs749160249 0.00002
NM_003289.4(TPM2):c.759C>T (p.Ile253=) rs1057524292 0.00002
NM_003289.4(TPM2):c.114+9C>T rs537297747 0.00001
NM_003289.4(TPM2):c.192G>A (p.Val64=) rs1382163428 0.00001
NM_003289.4(TPM2):c.234C>T (p.Ala78=) rs749197310 0.00001
NM_003289.4(TPM2):c.295C>T (p.Leu99=) rs904588318 0.00001
NM_003289.4(TPM2):c.375-13C>T rs761810825 0.00001
NM_003289.4(TPM2):c.450G>A (p.Glu150=) rs775425326 0.00001
NM_003289.4(TPM2):c.462C>T (p.Ile154=) rs1294721413 0.00001
NM_003289.4(TPM2):c.492+9C>T rs1037460279 0.00001
NM_003289.4(TPM2):c.493-10C>T rs770755856 0.00001
NM_003289.4(TPM2):c.537G>A (p.Ser179=) rs758819415 0.00001
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.563+13G>C rs200644786 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003289.4(TPM2):c.588G>A (p.Glu196=) rs777013950 0.00001
NM_003289.4(TPM2):c.639+16G>A rs777513303 0.00001
NM_003289.4(TPM2):c.640-15G>A rs374069635 0.00001
NM_003289.4(TPM2):c.640-17G>C rs774074711 0.00001
NM_003289.4(TPM2):c.640-18dup rs746703203 0.00001
NM_003289.4(TPM2):c.640-19G>A rs1455692788 0.00001
NM_003289.4(TPM2):c.645C>T (p.Ser215=) rs1231488023 0.00001
NM_003289.4(TPM2):c.666A>G (p.Glu222=) rs567593410 0.00001
NM_003289.4(TPM2):c.669G>A (p.Glu223=) rs148003612 0.00001
NM_003289.4(TPM2):c.66C>G (p.Ala22=) rs1195125126 0.00001
NM_003289.4(TPM2):c.735T>A (p.Ser245=) rs377342494 0.00001
NM_003289.4(TPM2):c.747G>A (p.Leu249=) rs1431432489 0.00001
NM_003289.4(TPM2):c.773-15C>T rs1041051353 0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=) rs201215303 0.00001
NM_003289.4(TPM2):c.816G>A (p.Glu272=) rs1472747179 0.00001
NM_003289.4(TPM2):c.81C>A (p.Ala27=) rs564977715 0.00001
NM_003289.4(TPM2):c.114+10G>A rs1416639797
NM_003289.4(TPM2):c.115-13C>T
NM_003289.4(TPM2):c.115-14C>A rs777476745
NM_003289.4(TPM2):c.115-16G>A rs2490701026
NM_003289.4(TPM2):c.115-5C>T rs1587966246
NM_003289.4(TPM2):c.180T>C (p.Tyr60=) rs1281970248
NM_003289.4(TPM2):c.240+15G>T rs1825106781
NM_003289.4(TPM2):c.241-14C>T rs767992303
NM_003289.4(TPM2):c.241-5C>T rs372898802
NM_003289.4(TPM2):c.261C>G (p.Ser87=)
NM_003289.4(TPM2):c.306C>T (p.Ala102=) rs1587959127
NM_003289.4(TPM2):c.318G>A (p.Leu106=) rs2131853365
NM_003289.4(TPM2):c.321T>G (p.Ala107=)
NM_003289.4(TPM2):c.348C>G (p.Ala116=)
NM_003289.4(TPM2):c.374+14T>C
NM_003289.4(TPM2):c.374+16G>C rs769858878
NM_003289.4(TPM2):c.375-11C>T rs2490683727
NM_003289.4(TPM2):c.375-15C>T rs2131852823
NM_003289.4(TPM2):c.426A>G (p.Glu142=) rs374856808
NM_003289.4(TPM2):c.432G>A (p.Gln144=) rs1317838599
NM_003289.4(TPM2):c.493-11_493-8del rs528068364
NM_003289.4(TPM2):c.493-20C>G
NM_003289.4(TPM2):c.493-7C>T rs1554658928
NM_003289.4(TPM2):c.507G>A (p.Leu169=) rs2490682335
NM_003289.4(TPM2):c.555G>A (p.Val185=) rs1587957884
NM_003289.4(TPM2):c.563+13G>A rs200644786
NM_003289.4(TPM2):c.563+13G>T rs200644786
NM_003289.4(TPM2):c.564-13A>C
NM_003289.4(TPM2):c.564-18G>C rs756207778
NM_003289.4(TPM2):c.564-19C>T rs1374322376
NM_003289.4(TPM2):c.564-19_564-18insT rs1554658817
NM_003289.4(TPM2):c.564-20C>T rs763690941
NM_003289.4(TPM2):c.564-20_564-19insT rs1563928166
NM_003289.4(TPM2):c.564-9C>A
NM_003289.4(TPM2):c.589C>T (p.Leu197=) rs2131849835
NM_003289.4(TPM2):c.619C>T (p.Leu207=) rs2490677855
NM_003289.4(TPM2):c.627C>G (p.Ala209=) rs2131849764
NM_003289.4(TPM2):c.640-19GT[6] rs1824762591
NM_003289.4(TPM2):c.640-20C>A rs772078954
NM_003289.4(TPM2):c.640-9C>T rs1661588104
NM_003289.4(TPM2):c.663T>C (p.Tyr221=) rs1465836003
NM_003289.4(TPM2):c.672G>A (p.Glu224=) rs1794631531
NM_003289.4(TPM2):c.69G>A (p.Glu23=) rs2131865690
NM_003289.4(TPM2):c.702+17A>C rs1161008624
NM_003289.4(TPM2):c.703-3dup rs1554658707
NM_003289.4(TPM2):c.703-5C>T rs887809455
NM_003289.4(TPM2):c.703-9T>C rs2131848760
NM_003289.4(TPM2):c.729G>A (p.Glu243=) rs751675623
NM_003289.4(TPM2):c.773-10_773-9insCG rs1554658504
NM_003289.4(TPM2):c.773-11A>G
NM_003289.4(TPM2):c.773-11dup rs2490671042
NM_003289.4(TPM2):c.773-5_773-4insT rs767660365
NM_003289.4(TPM2):c.773-7_773-6insCG rs750664741
NM_003289.4(TPM2):c.773-9C>A rs1175005753
NM_003289.4(TPM2):c.773-9C>G
NM_003289.4(TPM2):c.773-9_773-8insA rs756328776
NM_003289.4(TPM2):c.773-9_773-8insCA rs1554658503
NM_003289.4(TPM2):c.773-9_773-8insG rs756328776
NM_003289.4(TPM2):c.81C>T (p.Ala27=) rs564977715
NM_003289.4(TPM2):c.834C>T (p.Leu278=)
NM_003289.4(TPM2):c.96T>A (p.Ala32=)

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.