ClinVar Miner

List of variants studied for TPM3-related myopathy by Invitae

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
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.665A>T (p.Tyr222Phe) rs142817656 0.00016
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.327T>G (p.Thr109=) rs764255899 0.00005
NM_152263.4(TPM3):c.36G>A (p.Leu12=) rs748116674 0.00004
NM_152263.4(TPM3):c.495+7G>C rs749792884 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.855-1G>A rs113605263 0.00002
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala) rs1049537934 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.567-4A>C rs199517163 0.00001
NM_152263.4(TPM3):c.615C>G (p.Leu205=) rs1131561 0.00001
NM_152263.4(TPM3):c.642+4G>T rs1462764945 0.00001
NM_152263.4(TPM3):c.643-3C>T rs529845435 0.00001
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640 0.00001
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg) rs201202440 0.00001
NM_152263.4(TPM3):c.705+19T>C rs765448962 0.00001
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr) rs761036509 0.00001
NM_152263.4(TPM3):c.776-8C>T rs760834004 0.00001
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly) rs1455676920 0.00001
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg) rs536564074 0.00001
NM_152263.4(TPM3):c.816C>T (p.Ser272=) rs536564074 0.00001
NM_152263.4(TPM3):c.829C>A (p.His277Asn) rs747794605 0.00001
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr) rs377438824 0.00001
NM_152263.4(TPM3):c.835C>G (p.Leu279Val) rs186253666 0.00001
NM_152263.4(TPM3):c.844A>G (p.Met282Val) rs1661325667 0.00001
NM_152263.4(TPM3):c.849C>T (p.Thr283=) rs758366885 0.00001
NM_152263.4(TPM3):c.853A>G (p.Ile285Val) rs758557977 0.00001
NM_152263.4(TPM3):c.854+20G>A rs1300002756 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NC_000001.10:g.(?_154140413)_(154164494_?)dup
NC_000001.10:g.(?_154141771)_(154148734_?)del
NC_000001.10:g.(?_154148571)_(154148744_?)dup
NC_000001.10:g.(?_154163642)_(154164494_?)del
NC_000001.11:g.(?_154191166)_(154192038_?)del
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
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.118-3T>C rs375206251
NM_152263.4(TPM3):c.118-3_118-2del
NM_152263.4(TPM3):c.118C>G (p.Leu40Val) rs1160675914
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn) rs1663671899
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.159G>A (p.Gly53=)
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys) rs2148294608
NM_152263.4(TPM3):c.171G>A (p.Glu57=)
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
NM_152263.4(TPM3):c.212A>T (p.Lys71Met) rs2148294477
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del) rs2148294430
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
NM_152263.4(TPM3):c.243+11GA[2] rs146969764
NM_152263.4(TPM3):c.243+17T>C
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.273T>C (p.Arg91=) rs974189739
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn) rs2148257542
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
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.401G>A (p.Arg134Gln) rs769493959
NM_152263.4(TPM3):c.412G>C (p.Asp138His) rs2148242185
NM_152263.4(TPM3):c.423G>A (p.Lys141=) rs2148242145
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
NM_152263.4(TPM3):c.455C>T (p.Ala152Val) rs1553249076
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr) rs199474714
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly) rs1661790334
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.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
NM_152263.4(TPM3):c.510G>A (p.Leu170=)
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
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.589_590delinsAT (p.Glu197Met) rs2148235398
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.635C>T (p.Ala212Val)
NM_152263.4(TPM3):c.636G>A (p.Ala212=)
NM_152263.4(TPM3):c.642+2T>C
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.705+12G>T
NM_152263.4(TPM3):c.706-11A>G rs752438266
NM_152263.4(TPM3):c.706-13A>G
NM_152263.4(TPM3):c.706-2dup rs1085307588
NM_152263.4(TPM3):c.706-3C>T rs750493083
NM_152263.4(TPM3):c.706-4C>T rs2148231499
NM_152263.4(TPM3):c.706-5C>G
NM_152263.4(TPM3):c.706-6C>T rs1661447571
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) rs1661445206
NM_152263.4(TPM3):c.714C>G (p.Thr238=)
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.753A>G (p.Glu251=)
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
NM_152263.4(TPM3):c.760A>G (p.Ile254Val) rs1553248513
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
NM_152263.4(TPM3):c.775+15G>C
NM_152263.4(TPM3):c.775+6G>T
NM_152263.4(TPM3):c.775+7A>G
NM_152263.4(TPM3):c.776-15C>T
NM_152263.4(TPM3):c.776-18G>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.821A>C (p.Glu274Ala)
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
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys) rs1663696530
NM_152263.4(TPM3):c.87_91del (p.Gln30fs) rs2148295371
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu) rs1160965388
NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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