ClinVar Miner

List of variants in gene TPM2 studied for TPM2-related myopathy

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_213674.1(TPM2):c.-137T>A rs3793540 0.23673
NM_213674.1(TPM2):c.-136T>A rs3793539 0.23669
NM_213674.1(TPM2):c.-135T>A rs3793538 0.23661
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_003289.4(TPM2):c.*194C>T rs561175276 0.00068
NM_213674.1(TPM2):c.-238C>T rs886063908 0.00020
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.-65C>T rs377242459 0.00003
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.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=) rs201215303 0.00001
NM_003289.4(TPM2):c.*22C>A rs1824669468
NM_003289.4(TPM2):c.*7C>T rs79882576
NM_003289.4(TPM2):c.-92C>T rs886063906
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.4(TPM2):c.269G>A (p.Arg90His) rs1563929454
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr) rs1369077598
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_003289.4(TPM2):c.760G>A (p.Asp254Asn) rs1419786293
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003289.4(TPM2):c.773-5C>G rs1230541017
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)
NM_213674.1(TPM2):c.-118G>A rs986048371
NM_213674.1(TPM2):c.-142C>T rs1825166266
NM_213674.1(TPM2):c.773-2A>C rs2131843731
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943

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