ClinVar Miner

List of variants in gene TNNT1 studied for Nemaline myopathy 5

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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NC_000019.10:g.(?_55140863)_(55141322_?)del
NC_000019.10:g.(?_55140863)_(55147177_?)del
NC_000019.10:g.(?_55140873)_(55147167_?)del
NM_003283.6(TNNT1):c.*110T>C
NM_003283.6(TNNT1):c.*129C>G
NM_003283.6(TNNT1):c.102G>A (p.Glu34=) rs766589504
NM_003283.6(TNNT1):c.106+7G>A rs990953458
NM_003283.6(TNNT1):c.116G>A (p.Arg39His)
NM_003283.6(TNNT1):c.11C>T (p.Thr4Ile) rs1568849957
NM_003283.6(TNNT1):c.120dup (p.Lys41fs) rs1555859304
NM_003283.6(TNNT1):c.129-5C>G rs997219637
NM_003283.6(TNNT1):c.129-9T>G rs67795913
NM_003283.6(TNNT1):c.134C>T (p.Pro45Leu) rs201722303
NM_003283.6(TNNT1):c.136G>A (p.Val46Met)
NM_003283.6(TNNT1):c.139G>A (p.Val47Met) rs1599884701
NM_003283.6(TNNT1):c.156G>A (p.Pro52=) rs369149321
NM_003283.6(TNNT1):c.157C>T (p.Pro53Ser) rs755269853
NM_003283.6(TNNT1):c.16G>A (p.Glu6Lys) rs1599896616
NM_003283.6(TNNT1):c.183T>G (p.Val61=)
NM_003283.6(TNNT1):c.1A>G (p.Met1Val)
NM_003283.6(TNNT1):c.200A>C (p.His67Pro) rs1555858107
NM_003283.6(TNNT1):c.200A>G (p.His67Arg) rs1555858107
NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys)
NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn)
NM_003283.6(TNNT1):c.219A>G (p.Lys73=)
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys)
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) rs34313388
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly)
NM_003283.6(TNNT1):c.294C>T (p.Ala98=) rs373544170
NM_003283.6(TNNT1):c.295T>C (p.Leu99=)
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr)
NM_003283.6(TNNT1):c.309+6C>T
NM_003283.6(TNNT1):c.309+8G>C
NM_003283.6(TNNT1):c.310-14T>C rs115663668
NM_003283.6(TNNT1):c.310-8T>A
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val)
NM_003283.6(TNNT1):c.31_32+1del rs944152647
NM_003283.6(TNNT1):c.32+4A>T
NM_003283.6(TNNT1):c.32+5G>A rs1555859876
NM_003283.6(TNNT1):c.33-4G>A
NM_003283.6(TNNT1):c.33-5C>T rs540523935
NM_003283.6(TNNT1):c.33-7T>G
NM_003283.6(TNNT1):c.345C>A (p.Arg115=) rs1599882425
NM_003283.6(TNNT1):c.34G>C (p.Glu12Gln) rs748000993
NM_003283.6(TNNT1):c.353del (p.Thr118fs)
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) rs752992299
NM_003283.6(TNNT1):c.366C>T (p.Arg122=)
NM_003283.6(TNNT1):c.370C>T (p.Arg124Cys)
NM_003283.6(TNNT1):c.387+5G>A
NM_003283.6(TNNT1):c.387G>A (p.Ala129=) rs1415980730
NM_003283.6(TNNT1):c.388-11_388-8del rs1555857020
NM_003283.6(TNNT1):c.409G>A (p.Glu137Lys)
NM_003283.6(TNNT1):c.452del (p.Lys151fs)
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val)
NM_003283.6(TNNT1):c.46G>C (p.Glu16Gln) rs533504444
NM_003283.6(TNNT1):c.47-13C>T rs11669534
NM_003283.6(TNNT1):c.47-6C>G rs375682055
NM_003283.6(TNNT1):c.486C>T (p.Gly162=) rs746601153
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser)
NM_003283.6(TNNT1):c.501+1G>A
NM_003283.6(TNNT1):c.502-2A>G rs1156410888
NM_003283.6(TNNT1):c.508C>G (p.Gln170Glu) rs62126315
NM_003283.6(TNNT1):c.515G>A (p.Arg172His) rs749691780
NM_003283.6(TNNT1):c.523C>G (p.Arg175Gly) rs780372739
NM_003283.6(TNNT1):c.530C>T (p.Thr177Met) rs781338289
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp) rs757227738
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) rs80358249
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys)
NM_003283.6(TNNT1):c.561C>T (p.Ser187=) rs534454139
NM_003283.6(TNNT1):c.562G>A (p.Glu188Lys)
NM_003283.6(TNNT1):c.566G>A (p.Arg189His) rs770079408
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg)
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) rs141774400
NM_003283.6(TNNT1):c.585T>C (p.Ile195=)
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met)
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp)
NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter) rs1599875856
NM_003283.6(TNNT1):c.611+10G>A
NM_003283.6(TNNT1):c.611+12G>A rs376456377
NM_003283.6(TNNT1):c.611+12G>T rs376456377
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln)
NM_003283.6(TNNT1):c.612-4C>T
NM_003283.6(TNNT1):c.617G>A (p.Arg206Gln)
NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr) rs766147911
NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg)
NM_003283.6(TNNT1):c.695dup (p.Leu233fs)
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn)
NM_003283.6(TNNT1):c.714C>T (p.Phe238=)
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile)
NM_003283.6(TNNT1):c.725C>T (p.Ala242Val) rs779112211
NM_003283.6(TNNT1):c.73+10C>G rs1257429782
NM_003283.6(TNNT1):c.73+15T>G rs759885491
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr)
NM_003283.6(TNNT1):c.74-5C>T
NM_003283.6(TNNT1):c.750+15C>T rs138664823
NM_003283.6(TNNT1):c.751-5C>T rs192248377
NM_003283.6(TNNT1):c.756C>T (p.Asn252=)
NM_003283.6(TNNT1):c.757G>A (p.Val253Met) rs572119503
NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys) rs1599869703
NM_003283.6(TNNT1):c.77C>A (p.Pro26His)
NM_003283.6(TNNT1):c.780C>T (p.His260=) rs78810486
NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg) rs377276702
NM_003283.6(TNNT1):c.78C>G (p.Pro26=)
NM_003283.6(TNNT1):c.791+12C>T rs201143291
NM_003283.6(TNNT1):c.792-2A>G rs1555855228
NM_003283.6(TNNT1):c.795= (p.Arg265=) rs890868
NM_003283.6(TNNT1):c.795G>T (p.Arg265=) rs890868
NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr) rs200340030
NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys)
NM_003283.6(TNNT1):c.87G>A (p.Pro29=) rs930840597

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