ClinVar Miner

List of variants in gene TNNT1 studied for Nemaline myopathy 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_003283.6(TNNT1):c.795= (p.Arg265=) rs890868 0.99361
NM_003283.6(TNNT1):c.47-13C>T rs11669534 0.11553
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_003283.6(TNNT1):c.751-16T>C rs77273500 0.03649
NM_003283.6(TNNT1):c.795G>T (p.Arg265=) rs890868 0.00639
NM_003283.6(TNNT1):c.310-14T>C rs115663668 0.00636
NM_003283.6(TNNT1):c.*110T>C rs147109223 0.00303
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) rs34313388 0.00292
NM_003283.6(TNNT1):c.780C>T (p.His260=) rs78810486 0.00121
NM_003283.6(TNNT1):c.128+17T>G rs201135309 0.00101
NM_003283.6(TNNT1):c.750+15C>T rs138664823 0.00086
NM_003283.6(TNNT1):c.107-16C>A rs187180704 0.00056
NM_003283.6(TNNT1):c.617G>A (p.Arg206Gln) rs199652942 0.00052
NM_003283.6(TNNT1):c.106+7G>A rs990953458 0.00028
NM_003283.6(TNNT1):c.501+16G>A rs756579163 0.00023
NM_003283.6(TNNT1):c.156G>A (p.Pro52=) rs369149321 0.00019
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) rs141774400 0.00019
NM_003283.6(TNNT1):c.87G>A (p.Pro29=) rs930840597 0.00018
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) rs80358249 0.00016
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr) rs372922115 0.00016
NM_003283.6(TNNT1):c.295T>C (p.Leu99=) rs144259310 0.00011
NM_003283.6(TNNT1):c.134C>T (p.Pro45Leu) rs201722303 0.00007
NM_003283.6(TNNT1):c.791+13G>A rs758233147 0.00007
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) rs752992299 0.00006
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser) rs374891900 0.00006
NM_003283.6(TNNT1):c.791+12C>T rs201143291 0.00006
NM_003283.6(TNNT1):c.*129C>G rs1014566207 0.00005
NM_003283.6(TNNT1):c.551G>A (p.Arg184His) rs759548188 0.00005
NM_003283.6(TNNT1):c.725C>T (p.Ala242Val) rs779112211 0.00005
NM_003283.6(TNNT1):c.192+18C>G rs1041324336 0.00004
NM_003283.6(TNNT1):c.294C>T (p.Ala98=) rs373544170 0.00004
NM_003283.6(TNNT1):c.502-17G>A rs370760520 0.00004
NM_003283.6(TNNT1):c.562G>A (p.Glu188Lys) rs201519507 0.00004
NM_003283.6(TNNT1):c.566G>A (p.Arg189His) rs770079408 0.00004
NM_003283.6(TNNT1):c.73+6G>A rs1056384260 0.00004
NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr) rs200340030 0.00004
NM_003283.6(TNNT1):c.102G>A (p.Glu34=) rs766589504 0.00003
NM_003283.6(TNNT1):c.387+14C>T rs372717424 0.00003
NM_003283.6(TNNT1):c.387G>A (p.Ala129=) rs1415980730 0.00003
NM_003283.6(TNNT1):c.47-6C>G rs375682055 0.00003
NM_003283.6(TNNT1):c.508C>G (p.Gln170Glu) rs62126315 0.00003
NM_003283.6(TNNT1):c.815G>A (p.Arg272His) rs533424787 0.00003
NM_003283.6(TNNT1):c.128+9C>T rs776650179 0.00002
NM_003283.6(TNNT1):c.256T>G (p.Phe86Val) rs1222022158 0.00002
NM_003283.6(TNNT1):c.611+10G>A rs370899653 0.00002
NM_003283.6(TNNT1):c.700G>A (p.Glu234Lys) rs1188124969 0.00002
NM_003283.6(TNNT1):c.73+15T>G rs759885491 0.00002
NM_003283.6(TNNT1):c.756C>T (p.Asn252=) rs61737472 0.00002
NM_003283.6(TNNT1):c.769C>T (p.Arg257Cys) rs774943217 0.00002
NM_003283.6(TNNT1):c.793C>T (p.Arg265Trp) rs765317516 0.00002
NM_003283.6(TNNT1):c.107-14C>G rs201268285 0.00001
NM_003283.6(TNNT1):c.107-9C>A rs1357883476 0.00001
NM_003283.6(TNNT1):c.128+5G>A rs769428135 0.00001
NM_003283.6(TNNT1):c.12C>G (p.Thr4=) rs747183274 0.00001
NM_003283.6(TNNT1):c.136G>A (p.Val46Met) rs778199645 0.00001
NM_003283.6(TNNT1):c.144T>A (p.Pro48=) rs141999523 0.00001
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly) rs1308212644 0.00001
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr) rs1050413432 0.00001
NM_003283.6(TNNT1):c.309+18G>A rs1401297428 0.00001
NM_003283.6(TNNT1):c.309+1G>A rs149559898 0.00001
NM_003283.6(TNNT1):c.310-8T>A rs1322654025 0.00001
NM_003283.6(TNNT1):c.310-9G>T rs538375627 0.00001
NM_003283.6(TNNT1):c.33-5C>T rs540523935 0.00001
NM_003283.6(TNNT1):c.34G>C (p.Glu12Gln) rs748000993 0.00001
NM_003283.6(TNNT1):c.366C>T (p.Arg122=) rs375999352 0.00001
NM_003283.6(TNNT1):c.409G>A (p.Glu137Lys) rs1266457771 0.00001
NM_003283.6(TNNT1):c.486C>T (p.Gly162=) rs746601153 0.00001
NM_003283.6(TNNT1):c.502-2A>G rs1156410888 0.00001
NM_003283.6(TNNT1):c.515G>A (p.Arg172His) rs749691780 0.00001
NM_003283.6(TNNT1):c.530C>T (p.Thr177Met) rs781338289 0.00001
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp) rs757227738 0.00001
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys) rs12976760 0.00001
NM_003283.6(TNNT1):c.558C>G (p.Leu186=) rs553926696 0.00001
NM_003283.6(TNNT1):c.561C>T (p.Ser187=) rs534454139 0.00001
NM_003283.6(TNNT1):c.565C>T (p.Arg189Cys) rs780429876 0.00001
NM_003283.6(TNNT1):c.592A>G (p.Met198Val) rs757782018 0.00001
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln) rs765133367 0.00001
NM_003283.6(TNNT1):c.612-14G>A rs370624486 0.00001
NM_003283.6(TNNT1):c.612-4C>T rs201907144 0.00001
NM_003283.6(TNNT1):c.616C>T (p.Arg206Trp) rs748222508 0.00001
NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr) rs766147911 0.00001
NM_003283.6(TNNT1):c.644C>T (p.Pro215Leu) rs1243419099 0.00001
NM_003283.6(TNNT1):c.681G>A (p.Ser227=) rs776884783 0.00001
NM_003283.6(TNNT1):c.71A>G (p.Glu24Gly) rs1391760195 0.00001
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile) rs2085298945 0.00001
NM_003283.6(TNNT1):c.73+10C>G rs1257429782 0.00001
NM_003283.6(TNNT1):c.73+16C>G rs932018159 0.00001
NM_003283.6(TNNT1):c.747T>C (p.Tyr249=) rs191386020 0.00001
NM_003283.6(TNNT1):c.750+16G>A rs755882752 0.00001
NM_003283.6(TNNT1):c.757G>A (p.Val253Met) rs572119503 0.00001
NM_003283.6(TNNT1):c.77C>A (p.Pro26His) rs1049167818 0.00001
NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg) rs377276702 0.00001
NM_003283.6(TNNT1):c.78C>G (p.Pro26=) rs1049123555 0.00001
NM_003283.6(TNNT1):c.804A>G (p.Ala268=) rs1365147328 0.00001
NM_003283.6(TNNT1):c.816C>T (p.Arg272=) rs547140362 0.00001
NM_003283.6(TNNT1):c.817G>A (p.Val273Ile) rs774212109 0.00001
NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys) rs201409131 0.00001
NM_003283.6(TNNT1):c.834G>A (p.Lys278=) rs929705577 0.00001
NC_000019.10:g.(?_55132793)_(55132961_55133886)del
NC_000019.9:g.(?_55652544)_(55656943_?)del
NM_003283.6(TNNT1):c.106+18G>C
NM_003283.6(TNNT1):c.107-10C>T
NM_003283.6(TNNT1):c.107-11A>C rs2147265069
NM_003283.6(TNNT1):c.107-12C>T
NM_003283.6(TNNT1):c.107-9C>G
NM_003283.6(TNNT1):c.115C>A (p.Arg39Ser)
NM_003283.6(TNNT1):c.116G>A (p.Arg39His) rs1599891643
NM_003283.6(TNNT1):c.11C>T (p.Thr4Ile) rs1568849957
NM_003283.6(TNNT1):c.120dup (p.Lys41fs) rs1555859304
NM_003283.6(TNNT1):c.123A>G (p.Lys41=)
NM_003283.6(TNNT1):c.128+20G>T
NM_003283.6(TNNT1):c.129-16G>C
NM_003283.6(TNNT1):c.129-16_129-15del
NM_003283.6(TNNT1):c.129-5C>G rs997219637
NM_003283.6(TNNT1):c.129-6A>C rs2147256936
NM_003283.6(TNNT1):c.135C>G (p.Pro45=)
NM_003283.6(TNNT1):c.139G>A (p.Val47Met) rs1599884701
NM_003283.6(TNNT1):c.146C>G (p.Pro49Arg)
NM_003283.6(TNNT1):c.157C>T (p.Pro53Ser) rs755269853
NM_003283.6(TNNT1):c.168A>G (p.Pro56=)
NM_003283.6(TNNT1):c.16G>A (p.Glu6Lys) rs1599896616
NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)
NM_003283.6(TNNT1):c.174G>A (p.Gly58=) rs1044922979
NM_003283.6(TNNT1):c.180C>T (p.Arg60=)
NM_003283.6(TNNT1):c.183T>G (p.Val61=) rs750222246
NM_003283.6(TNNT1):c.192+2dup
NM_003283.6(TNNT1):c.192+9C>A
NM_003283.6(TNNT1):c.192T>G (p.Asp64Glu)
NM_003283.6(TNNT1):c.1A>G (p.Met1Val) rs2085575423
NM_003283.6(TNNT1):c.263A>G (p.Gln88Arg) rs2147254988
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys) rs1449981150
NM_003283.6(TNNT1):c.301G>A (p.Glu101Lys)
NM_003283.6(TNNT1):c.304C>A (p.Arg102Ser) rs774855200
NM_003283.6(TNNT1):c.309+15C>G
NM_003283.6(TNNT1):c.309+15C>T
NM_003283.6(TNNT1):c.309+19T>A
NM_003283.6(TNNT1):c.309+6C>T rs932070035
NM_003283.6(TNNT1):c.309+8G>C rs374839229
NM_003283.6(TNNT1):c.310-18T>C
NM_003283.6(TNNT1):c.310-20T>C
NM_003283.6(TNNT1):c.310-2A>T
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) rs2085441049
NM_003283.6(TNNT1):c.319C>T (p.Arg107Trp) rs755856894
NM_003283.6(TNNT1):c.31_32+1del rs944152647
NM_003283.6(TNNT1):c.32+12A>G rs2085573589
NM_003283.6(TNNT1):c.32+4A>T rs780644788
NM_003283.6(TNNT1):c.32+5G>A rs1555859876
NM_003283.6(TNNT1):c.32+8C>T rs371750770
NM_003283.6(TNNT1):c.320G>A (p.Arg107Gln) rs2147254128
NM_003283.6(TNNT1):c.327G>A (p.Glu109=)
NM_003283.6(TNNT1):c.33-12A>G
NM_003283.6(TNNT1):c.33-15C>G rs992633695
NM_003283.6(TNNT1):c.33-1G>A
NM_003283.6(TNNT1):c.33-4G>A rs2085570386
NM_003283.6(TNNT1):c.33-7T>G rs771002524
NM_003283.6(TNNT1):c.334G>T (p.Glu112Ter)
NM_003283.6(TNNT1):c.336G>A (p.Glu112=)
NM_003283.6(TNNT1):c.345C>A (p.Arg115=) rs1599882425
NM_003283.6(TNNT1):c.353del (p.Thr118fs) rs2085439767
NM_003283.6(TNNT1):c.370C>T (p.Arg124Cys) rs2085439112
NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro)
NM_003283.6(TNNT1):c.387+13C>T
NM_003283.6(TNNT1):c.387+14_387+19del
NM_003283.6(TNNT1):c.387+1G>A rs2147253798
NM_003283.6(TNNT1):c.387+5G>A rs2085438435
NM_003283.6(TNNT1):c.388-11_388-8del rs1555857020
NM_003283.6(TNNT1):c.388-16C>T
NM_003283.6(TNNT1):c.388-3C>G
NM_003283.6(TNNT1):c.388-5C>T rs1301665220
NM_003283.6(TNNT1):c.388-9T>C rs537892791
NM_003283.6(TNNT1):c.401G>A (p.Arg134Lys)
NM_003283.6(TNNT1):c.408A>G (p.Glu136=)
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter) rs1250741190
NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)
NM_003283.6(TNNT1):c.42G>A (p.Pro14=)
NM_003283.6(TNNT1):c.435G>A (p.Glu145=)
NM_003283.6(TNNT1):c.452del (p.Lys151fs) rs2085385176
NM_003283.6(TNNT1):c.46+10G>T
NM_003283.6(TNNT1):c.46+6T>C
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val) rs2085384859
NM_003283.6(TNNT1):c.46G>A (p.Glu16Lys) rs533504444
NM_003283.6(TNNT1):c.46G>C (p.Glu16Gln) rs533504444
NM_003283.6(TNNT1):c.47-11C>T
NM_003283.6(TNNT1):c.47-18C>T
NM_003283.6(TNNT1):c.47-9C>T rs1319777845
NM_003283.6(TNNT1):c.501+1G>A rs766934517
NM_003283.6(TNNT1):c.502-16C>T
NM_003283.6(TNNT1):c.502-18C>T
NM_003283.6(TNNT1):c.502-9dup
NM_003283.6(TNNT1):c.514C>T (p.Arg172Cys)
NM_003283.6(TNNT1):c.523C>G (p.Arg175Gly) rs780372739
NM_003283.6(TNNT1):c.531G>A (p.Thr177=)
NM_003283.6(TNNT1):c.536G>A (p.Arg179Gln) rs2147244813
NM_003283.6(TNNT1):c.54T>G (p.Ala18=)
NM_003283.6(TNNT1):c.554T>C (p.Ile185Thr) rs970200564
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg) rs2085359836
NM_003283.6(TNNT1):c.573G>T (p.Lys191Asn)
NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu) rs2147244624
NM_003283.6(TNNT1):c.584T>C (p.Ile195Thr)
NM_003283.6(TNNT1):c.585T>C (p.Ile195=) rs2085359369
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met) rs2085359369
NM_003283.6(TNNT1):c.589T>G (p.Tyr197Asp)
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp) rs1041234929
NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter) rs1599875856
NM_003283.6(TNNT1):c.609C>G (p.Leu203=)
NM_003283.6(TNNT1):c.610C>T (p.Arg204Trp)
NM_003283.6(TNNT1):c.611+11T>G
NM_003283.6(TNNT1):c.611+12G>A rs376456377
NM_003283.6(TNNT1):c.611+12G>T rs376456377
NM_003283.6(TNNT1):c.611+20C>G
NM_003283.6(TNNT1):c.611+20C>T
NM_003283.6(TNNT1):c.612-15C>T
NM_003283.6(TNNT1):c.616C>G (p.Arg206Gly)
NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro)
NM_003283.6(TNNT1):c.61dup (p.Glu21fs)
NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter)
NM_003283.6(TNNT1):c.641A>G (p.Gln214Arg) rs2147236699
NM_003283.6(TNNT1):c.642G>A (p.Gln214=)
NM_003283.6(TNNT1):c.647C>G (p.Ser216Cys) rs1414740144
NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg) rs2085300916
NM_003283.6(TNNT1):c.658A>T (p.Arg220Trp) rs113157106
NM_003283.6(TNNT1):c.695dup (p.Leu233fs) rs2085299661
NM_003283.6(TNNT1):c.696G>A (p.Gln232=)
NM_003283.6(TNNT1):c.6G>C (p.Ser2=)
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn) rs920784477
NM_003283.6(TNNT1):c.714C>T (p.Phe238=) rs773910830
NM_003283.6(TNNT1):c.715G>A (p.Asp239Asn)
NM_003283.6(TNNT1):c.726G>A (p.Ala242=)
NM_003283.6(TNNT1):c.734A>T (p.Lys245Ile)
NM_003283.6(TNNT1):c.74-18C>A
NM_003283.6(TNNT1):c.74-5C>T rs749168050
NM_003283.6(TNNT1):c.74-67C>A
NM_003283.6(TNNT1):c.74-7_74-4del
NM_003283.6(TNNT1):c.74-8dup rs1156241533
NM_003283.6(TNNT1):c.74-9C>T
NM_003283.6(TNNT1):c.742A>T (p.Lys248Ter)
NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys)
NM_003283.6(TNNT1):c.751-16T>A rs77273500
NM_003283.6(TNNT1):c.751-4G>A rs759088786
NM_003283.6(TNNT1):c.751-5C>T rs192248377
NM_003283.6(TNNT1):c.751-6C>G
NM_003283.6(TNNT1):c.751-8del
NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys) rs1599869703
NM_003283.6(TNNT1):c.78C>T (p.Pro26=)
NM_003283.6(TNNT1):c.78del (p.Glu27fs) rs1224321111
NM_003283.6(TNNT1):c.792-12A>G
NM_003283.6(TNNT1):c.792-2A>G rs1555855228
NM_003283.6(TNNT1):c.792-6C>G
NM_003283.6(TNNT1):c.798G>A (p.Lys266=)
NM_003283.6(TNNT1):c.799G>C (p.Gly267Arg)
NM_003283.6(TNNT1):c.804A>C (p.Ala268=) rs1365147328
NM_003283.6(TNNT1):c.81A>T (p.Glu27Asp) rs1267757904
NM_003283.6(TNNT1):c.822A>T (p.Gly274=)
NM_003283.6(TNNT1):c.89A>T (p.Glu30Val) rs2147267125
NM_003283.6(TNNT1):c.93G>T (p.Pro31=) rs2085553446
NM_003283.6(TNNT1):c.94G>T (p.Val32Leu) rs779711295

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