ClinVar Miner

List of variants reported as likely benign for TPM3-related myopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00022
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00019
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858 0.00006
NM_152263.4(TPM3):c.60G>A (p.Leu20=) rs770751758 0.00005
NM_152263.4(TPM3):c.855-20A>G rs763601742 0.00005
NM_152263.4(TPM3):c.36G>A (p.Leu12=) rs748116674 0.00004
NM_152263.4(TPM3):c.643-13A>C rs377200139 0.00003
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.854+8T>C rs756332658 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.339G>A (p.Lys113=) rs548951753 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_152263.4(TPM3):c.552T>C (p.Ala184=) rs918869729 0.00002
NM_152263.4(TPM3):c.776-6G>A rs558574364 0.00002
NM_152263.4(TPM3):c.776-8C>T rs760834004 0.00002
NM_152263.4(TPM3):c.777T>C (p.Asp259=) rs767812868 0.00002
NM_152263.4(TPM3):c.796C>T (p.Leu266=) rs189530777 0.00002
NM_152263.4(TPM3):c.118-20G>C rs1558068619 0.00001
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.340C>T (p.Leu114=) rs760913266 0.00001
NM_152263.4(TPM3):c.378-11A>T rs374552223 0.00001
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027 0.00001
NM_152263.4(TPM3):c.495+12T>G rs1661788511 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.636G>A (p.Ala212=) rs779661767 0.00001
NM_152263.4(TPM3):c.705+19T>C rs765448962 0.00001
NM_152263.4(TPM3):c.706-13A>G rs1048411103 0.00001
NM_152263.4(TPM3):c.776-15C>T rs753923165 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 rs2526060452
NM_152263.4(TPM3):c.118-11G>C rs2526056341
NM_152263.4(TPM3):c.159G>A (p.Gly53=) rs1203277864
NM_152263.4(TPM3):c.171G>A (p.Glu57=) rs1465471169
NM_152263.4(TPM3):c.243+17T>C rs1287338526
NM_152263.4(TPM3):c.273T>C (p.Arg91=) rs974189739
NM_152263.4(TPM3):c.36G>C (p.Leu12=) rs748116674
NM_152263.4(TPM3):c.378-11A>G rs374552223
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+13C>T rs2148241904
NM_152263.4(TPM3):c.495+7G>A
NM_152263.4(TPM3):c.495+9C>G rs1661789594
NM_152263.4(TPM3):c.510G>A (p.Leu170=) rs1558046183
NM_152263.4(TPM3):c.556C>T (p.Leu186=) rs1203258070
NM_152263.4(TPM3):c.566+13C>T rs2526034786
NM_152263.4(TPM3):c.566+14T>G
NM_152263.4(TPM3):c.567-13A>C
NM_152263.4(TPM3):c.567-9T>C
NM_152263.4(TPM3):c.591G>A (p.Glu197=) rs1558043449
NM_152263.4(TPM3):c.612C>T (p.Asn204=) rs896106795
NM_152263.4(TPM3):c.621T>G (p.Ser207=) rs2526012003
NM_152263.4(TPM3):c.636G>T (p.Ala212=)
NM_152263.4(TPM3):c.642+8C>G rs1438703748
NM_152263.4(TPM3):c.643-19T>A
NM_152263.4(TPM3):c.643-8T>C
NM_152263.4(TPM3):c.643-8_643-4del rs1259660072
NM_152263.4(TPM3):c.657A>G (p.Glu219=)
NM_152263.4(TPM3):c.687T>C (p.Leu229=) rs2526001143
NM_152263.4(TPM3):c.705+12_705+16dup
NM_152263.4(TPM3):c.706-11A>G rs752438266
NM_152263.4(TPM3):c.706-4C>T rs2148231499
NM_152263.4(TPM3):c.706-5C>G rs754894153
NM_152263.4(TPM3):c.706-6C>T rs1661447571
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.714C>G (p.Thr238=) rs542542371
NM_152263.4(TPM3):c.753A>G (p.Glu251=) rs2525996978
NM_152263.4(TPM3):c.775+15G>C rs368686544
NM_152263.4(TPM3):c.775+20G>A
NM_152263.4(TPM3):c.775+7A>G rs2148230960
NM_152263.4(TPM3):c.776-10G>T
NM_152263.4(TPM3):c.776-6G>C rs558574364
NM_152263.4(TPM3):c.780G>A (p.Glu260=) rs1661333585
NM_152263.4(TPM3):c.855-19T>G rs1396422594
NM_152263.4(TPM3):c.855-6A>T rs2148221842
NM_152263.4(TPM3):c.855-8T>A rs1661163860

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