ClinVar Miner

List of variants in gene TNNT1 reported as likely benign for Nemaline myopathy 5

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
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.128+17T>G rs201135309 0.00101
NM_003283.6(TNNT1):c.750+15C>T rs138664823 0.00086
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.87G>A (p.Pro29=) rs930840597 0.00018
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.192+18C>G rs1041324336 0.00004
NM_003283.6(TNNT1):c.294C>T (p.Ala98=) rs373544170 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.47-6C>G rs375682055 0.00003
NM_003283.6(TNNT1):c.128+9C>T rs776650179 0.00002
NM_003283.6(TNNT1):c.611+10G>A rs370899653 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.107-14C>G rs201268285 0.00001
NM_003283.6(TNNT1):c.107-9C>A rs1357883476 0.00001
NM_003283.6(TNNT1):c.12C>G (p.Thr4=) rs747183274 0.00001
NM_003283.6(TNNT1):c.144T>A (p.Pro48=) rs141999523 0.00001
NM_003283.6(TNNT1):c.309+18G>A rs1401297428 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.366C>T (p.Arg122=) rs375999352 0.00001
NM_003283.6(TNNT1):c.486C>T (p.Gly162=) rs746601153 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.612-14G>A rs370624486 0.00001
NM_003283.6(TNNT1):c.612-4C>T rs201907144 0.00001
NM_003283.6(TNNT1):c.681G>A (p.Ser227=) rs776884783 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.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.834G>A (p.Lys278=) rs929705577 0.00001
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.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.129-6A>C rs2147256936
NM_003283.6(TNNT1):c.135C>G (p.Pro45=)
NM_003283.6(TNNT1):c.168A>G (p.Pro56=)
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+9C>A
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+8G>C rs374839229
NM_003283.6(TNNT1):c.310-18T>C
NM_003283.6(TNNT1):c.310-20T>C
NM_003283.6(TNNT1):c.32+12A>G rs2085573589
NM_003283.6(TNNT1):c.32+8C>T rs371750770
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.33-4G>A rs2085570386
NM_003283.6(TNNT1):c.336G>A (p.Glu112=)
NM_003283.6(TNNT1):c.345C>A (p.Arg115=) rs1599882425
NM_003283.6(TNNT1):c.387+13C>T
NM_003283.6(TNNT1):c.387+14_387+19del
NM_003283.6(TNNT1):c.388-11_388-8del rs1555857020
NM_003283.6(TNNT1):c.388-16C>T
NM_003283.6(TNNT1):c.388-5C>T rs1301665220
NM_003283.6(TNNT1):c.388-9T>C rs537892791
NM_003283.6(TNNT1):c.408A>G (p.Glu136=)
NM_003283.6(TNNT1):c.42G>A (p.Pro14=)
NM_003283.6(TNNT1):c.435G>A (p.Glu145=)
NM_003283.6(TNNT1):c.46+10G>T
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.502-16C>T
NM_003283.6(TNNT1):c.502-18C>T
NM_003283.6(TNNT1):c.531G>A (p.Thr177=)
NM_003283.6(TNNT1):c.54T>G (p.Ala18=)
NM_003283.6(TNNT1):c.585T>C (p.Ile195=) rs2085359369
NM_003283.6(TNNT1):c.609C>G (p.Leu203=)
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.642G>A (p.Gln214=)
NM_003283.6(TNNT1):c.696G>A (p.Gln232=)
NM_003283.6(TNNT1):c.6G>C (p.Ser2=)
NM_003283.6(TNNT1):c.714C>T (p.Phe238=) rs773910830
NM_003283.6(TNNT1):c.726G>A (p.Ala242=)
NM_003283.6(TNNT1):c.74-18C>A
NM_003283.6(TNNT1):c.74-5C>T rs749168050
NM_003283.6(TNNT1):c.74-7_74-4del
NM_003283.6(TNNT1):c.74-9C>T
NM_003283.6(TNNT1):c.751-16T>A rs77273500
NM_003283.6(TNNT1):c.751-4G>A rs759088786
NM_003283.6(TNNT1):c.751-6C>G
NM_003283.6(TNNT1):c.751-8del
NM_003283.6(TNNT1):c.78C>T (p.Pro26=)
NM_003283.6(TNNT1):c.792-12A>G
NM_003283.6(TNNT1):c.798G>A (p.Lys266=)
NM_003283.6(TNNT1):c.804A>C (p.Ala268=) rs1365147328
NM_003283.6(TNNT1):c.822A>T (p.Gly274=)
NM_003283.6(TNNT1):c.93G>T (p.Pro31=) rs2085553446

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