ClinVar Miner

List of variants reported as likely benign for TPM3-related myopathy by Invitae

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00020
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00019
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858 0.00006
NM_152263.4(TPM3):c.60G>A (p.Leu20=) rs770751758 0.00006
NM_152263.4(TPM3):c.36G>A (p.Leu12=) rs748116674 0.00004
NM_152263.4(TPM3):c.706-8T>G rs1273121877 0.00003
NM_152263.4(TPM3):c.831C>T (p.His277=) rs781032589 0.00003
NM_152263.4(TPM3):c.231G>A (p.Lys77=) rs761461964 0.00002
NM_152263.4(TPM3):c.234G>A (p.Lys78=) rs888396890 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_152263.4(TPM3):c.777T>C (p.Asp259=) rs767812868 0.00002
NM_152263.4(TPM3):c.172C>T (p.Leu58=) rs997905094 0.00001
NM_152263.4(TPM3):c.210G>A (p.Glu70=) rs767668245 0.00001
NM_152263.4(TPM3):c.228G>A (p.Glu76=) rs765071258 0.00001
NM_152263.4(TPM3):c.246T>C (p.Ala82=) rs751578993 0.00001
NM_152263.4(TPM3):c.339G>A (p.Lys113=) rs548951753 0.00001
NM_152263.4(TPM3):c.340C>T (p.Leu114=) rs760913266 0.00001
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027 0.00001
NM_152263.4(TPM3):c.546A>G (p.Glu182=) rs762856025 0.00001
NM_152263.4(TPM3):c.615C>G (p.Leu205=) rs1131561 0.00001
NM_152263.4(TPM3):c.705+19T>C rs765448962 0.00001
NM_152263.4(TPM3):c.776-8C>T rs760834004 0.00001
NM_152263.4(TPM3):c.816C>T (p.Ser272=) rs536564074 0.00001
NM_152263.4(TPM3):c.849C>T (p.Thr283=) rs758366885 0.00001
NM_152263.4(TPM3):c.854+20G>A rs1300002756 0.00001
NM_152263.4(TPM3):c.117+14T>C
NM_152263.4(TPM3):c.118-11G>C
NM_152263.4(TPM3):c.118-20G>C
NM_152263.4(TPM3):c.159G>A (p.Gly53=)
NM_152263.4(TPM3):c.171G>A (p.Glu57=)
NM_152263.4(TPM3):c.243+17T>C
NM_152263.4(TPM3):c.273T>C (p.Arg91=) rs974189739
NM_152263.4(TPM3):c.36G>C (p.Leu12=)
NM_152263.4(TPM3):c.378-11A>G
NM_152263.4(TPM3):c.378-11A>T
NM_152263.4(TPM3):c.378-16G>T rs2148242406
NM_152263.4(TPM3):c.423G>A (p.Lys141=) rs2148242145
NM_152263.4(TPM3):c.495+10C>G rs1043806769
NM_152263.4(TPM3):c.495+12T>G
NM_152263.4(TPM3):c.495+13C>T rs2148241904
NM_152263.4(TPM3):c.495+9C>G rs1661789594
NM_152263.4(TPM3):c.510G>A (p.Leu170=)
NM_152263.4(TPM3):c.552T>C (p.Ala184=)
NM_152263.4(TPM3):c.556C>T (p.Leu186=) rs1203258070
NM_152263.4(TPM3):c.566+13C>T
NM_152263.4(TPM3):c.591G>A (p.Glu197=)
NM_152263.4(TPM3):c.612C>T (p.Asn204=)
NM_152263.4(TPM3):c.621T>G (p.Ser207=)
NM_152263.4(TPM3):c.636G>A (p.Ala212=)
NM_152263.4(TPM3):c.642+8C>G
NM_152263.4(TPM3):c.643-13A>C
NM_152263.4(TPM3):c.643-8_643-4del
NM_152263.4(TPM3):c.687T>C (p.Leu229=)
NM_152263.4(TPM3):c.706-11A>G rs752438266
NM_152263.4(TPM3):c.706-13A>G
NM_152263.4(TPM3):c.706-4C>T rs2148231499
NM_152263.4(TPM3):c.706-5C>G
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.714C>G (p.Thr238=)
NM_152263.4(TPM3):c.753A>G (p.Glu251=)
NM_152263.4(TPM3):c.775+15G>C
NM_152263.4(TPM3):c.775+7A>G
NM_152263.4(TPM3):c.776-15C>T
NM_152263.4(TPM3):c.776-6G>A
NM_152263.4(TPM3):c.776-6G>C
NM_152263.4(TPM3):c.780G>A (p.Glu260=) rs1661333585
NM_152263.4(TPM3):c.796C>T (p.Leu266=) rs189530777
NM_152263.4(TPM3):c.854+8T>C
NM_152263.4(TPM3):c.855-19T>G
NM_152263.4(TPM3):c.855-20A>G
NM_152263.4(TPM3):c.855-6A>T rs2148221842
NM_152263.4(TPM3):c.855-8T>A

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