ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter) rs967542291 0.00001
NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter) rs779064556 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter) rs1341948399 0.00001
NM_001267550.2(TTN):c.68484del (p.Lys22828fs) rs1370805955 0.00001
NM_001267550.2(TTN):c.69420del (p.Gly23141fs) rs1330960948 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.100030del (p.Ser33344fs)
NM_001267550.2(TTN):c.100239G>A (p.Trp33413Ter) rs1575311499
NM_001267550.2(TTN):c.100558_100561dup (p.Gly33521fs) rs1553501572
NM_001267550.2(TTN):c.101854del (p.Ser33952fs)
NM_001267550.2(TTN):c.102090del (p.Glu34031fs)
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.102586del (p.Val34196fs)
NM_001267550.2(TTN):c.103048_103058del (p.Val34350fs)
NM_001267550.2(TTN):c.103840C>T (p.Gln34614Ter)
NM_001267550.2(TTN):c.104457C>A (p.Tyr34819Ter)
NM_001267550.2(TTN):c.105474_105477del (p.Pro35158_Thr35159insTer)
NM_001267550.2(TTN):c.106181_106185del (p.Lys35394fs)
NM_001267550.2(TTN):c.106864C>T (p.Gln35622Ter)
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.11040_11041del (p.Val3682fs)
NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter) rs932770906
NM_001267550.2(TTN):c.16939G>T (p.Glu5647Ter)
NM_001267550.2(TTN):c.1758_1763delinsT (p.Glu586fs) rs794729311
NM_001267550.2(TTN):c.18732del (p.Lys6244fs)
NM_001267550.2(TTN):c.19272_19275del (p.Ile6425fs)
NM_001267550.2(TTN):c.2371-6A>G
NM_001267550.2(TTN):c.26629A>T (p.Lys8877Ter)
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.29437_29440del (p.Lys9813fs)
NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter) rs1396898734
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.35044G>T (p.Glu11682Ter)
NM_001267550.2(TTN):c.3523+1_3523+5delinsCAGGAAC
NM_001267550.2(TTN):c.3800T>A (p.Leu1267Ter)
NM_001267550.2(TTN):c.40483_40484delinsTA (p.Gly13495Ter)
NM_001267550.2(TTN):c.41882dup (p.Glu13962fs)
NM_001267550.2(TTN):c.42024+4A>G
NM_001267550.2(TTN):c.42145_42149del (p.Val14049fs)
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42268del (p.Asp14090fs)
NM_001267550.2(TTN):c.42281C>A (p.Ser14094Ter)
NM_001267550.2(TTN):c.42388A>T (p.Lys14130Ter)
NM_001267550.2(TTN):c.42667C>T (p.Gln14223Ter)
NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter) rs376799532
NM_001267550.2(TTN):c.43633C>T (p.Gln14545Ter)
NM_001267550.2(TTN):c.44149del (p.Thr14717fs)
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44281+2_44281+3insTT
NM_001267550.2(TTN):c.44281+2dup rs773570018
NM_001267550.2(TTN):c.44281+5G>C
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.44400del (p.Lys14801fs) rs727503628
NM_001267550.2(TTN):c.44508del (p.Ala14837fs)
NM_001267550.2(TTN):c.45970A>T (p.Lys15324Ter)
NM_001267550.2(TTN):c.46048A>T (p.Arg15350Ter)
NM_001267550.2(TTN):c.46304+2T>G
NM_001267550.2(TTN):c.46637del (p.Gln15546fs)
NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)
NM_001267550.2(TTN):c.47337G>A (p.Trp15779Ter)
NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter) rs762271078
NM_001267550.2(TTN):c.47660_47663del (p.Gly15887fs)
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.48312+2dup rs776497397
NM_001267550.2(TTN):c.48313-2A>G
NM_001267550.2(TTN):c.48400A>T (p.Lys16134Ter)
NM_001267550.2(TTN):c.48661G>T (p.Glu16221Ter)
NM_001267550.2(TTN):c.49157_49158insACCACAAACTA (p.Tyr16386Ter)
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter) rs202094100
NM_001267550.2(TTN):c.49532+1G>A
NM_001267550.2(TTN):c.49548dup (p.Asn16517Ter)
NM_001267550.2(TTN):c.49608_49609dup (p.Ser16537fs)
NM_001267550.2(TTN):c.50983_50986dup (p.Lys16996delinsSerTer)
NM_001267550.2(TTN):c.51318G>A (p.Trp17106Ter)
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.52330del (p.Arg17444fs)
NM_001267550.2(TTN):c.52525del (p.Arg17509fs)
NM_001267550.2(TTN):c.52712_52713del (p.Pro17571fs)
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter) rs2054564830
NM_001267550.2(TTN):c.53922del (p.Asp17974fs)
NM_001267550.2(TTN):c.54118_54137del (p.Lys18040fs)
NM_001267550.2(TTN):c.55202dup (p.Ile18402fs)
NM_001267550.2(TTN):c.56064del (p.Ile18688fs)
NM_001267550.2(TTN):c.56122del (p.Ile18708fs) rs2154191490
NM_001267550.2(TTN):c.56190dup (p.Pro18731fs)
NM_001267550.2(TTN):c.56560G>T (p.Glu18854Ter)
NM_001267550.2(TTN):c.57166G>T (p.Gly19056Ter)
NM_001267550.2(TTN):c.57518_57521del (p.Lys19173fs)
NM_001267550.2(TTN):c.57519_57520del (p.Lys19174fs)
NM_001267550.2(TTN):c.58228del (p.Tyr19410fs)
NM_001267550.2(TTN):c.5878G>T (p.Glu1960Ter)
NM_001267550.2(TTN):c.58797del (p.Trp19600fs)
NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.59254dup (p.Thr19752fs)
NM_001267550.2(TTN):c.60098T>G (p.Leu20033Ter)
NM_001267550.2(TTN):c.60099dup (p.Glu20034fs) rs2050247265
NM_001267550.2(TTN):c.60264del (p.Val20089fs)
NM_001267550.2(TTN):c.60654del (p.Trp20219fs)
NM_001267550.2(TTN):c.60709C>T (p.Gln20237Ter)
NM_001267550.2(TTN):c.61067del (p.Pro20356fs)
NM_001267550.2(TTN):c.61218_61221dup (p.Val20408fs)
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs) rs2154184320
NM_001267550.2(TTN):c.61437_61438insA (p.Val20480fs)
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61678_61685del (p.Gly20560fs)
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter) rs2049677875
NM_001267550.2(TTN):c.62756dup (p.Leu20919fs)
NM_001267550.2(TTN):c.6283del (p.Ala2095fs)
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63729del (p.Lys21243fs)
NM_001267550.2(TTN):c.64185del (p.Ala21396fs)
NM_001267550.2(TTN):c.64506del (p.Gly21503fs)
NM_001267550.2(TTN):c.64551dup (p.Ala21518fs)
NM_001267550.2(TTN):c.64682del (p.Gly21561fs)
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
NM_001267550.2(TTN):c.64882C>T (p.Gln21628Ter)
NM_001267550.2(TTN):c.64991del (p.Lys21664fs)
NM_001267550.2(TTN):c.64995del (p.Asn21665fs)
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.65931G>A (p.Trp21977Ter)
NM_001267550.2(TTN):c.66305G>A (p.Trp22102Ter)
NM_001267550.2(TTN):c.66458dup (p.Gln22154fs)
NM_001267550.2(TTN):c.66806del (p.Lys22269fs)
NM_001267550.2(TTN):c.66859G>T (p.Gly22287Ter)
NM_001267550.2(TTN):c.66884G>A (p.Trp22295Ter)
NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)
NM_001267550.2(TTN):c.67570_67573del (p.Ser22524fs)
NM_001267550.2(TTN):c.67751G>A (p.Trp22584Ter)
NM_001267550.2(TTN):c.68452del (p.Val22818fs)
NM_001267550.2(TTN):c.68732_68735dup (p.Tyr22912Ter)
NM_001267550.2(TTN):c.68733dup (p.Tyr22912fs)
NM_001267550.2(TTN):c.6897G>A (p.Trp2299Ter)
NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter) rs794729281
NM_001267550.2(TTN):c.69402dup (p.Asp23135fs)
NM_001267550.2(TTN):c.69602dup (p.Thr23202fs)
NM_001267550.2(TTN):c.69815del (p.Ile23272fs)
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70293_70294del (p.Arg23431fs)
NM_001267550.2(TTN):c.70656_70660del (p.Ala23552_Trp23553insTer)
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter) rs1559449398
NM_001267550.2(TTN):c.70737G>A (p.Trp23579Ter)
NM_001267550.2(TTN):c.70935del (p.Ala23647fs)
NM_001267550.2(TTN):c.71117del (p.Pro23705_Leu23706insTer)
NM_001267550.2(TTN):c.71302C>T (p.Gln23768Ter)
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72009del (p.Asn24003fs)
NM_001267550.2(TTN):c.72010del (p.Ala24004fs)
NM_001267550.2(TTN):c.72041dup (p.Ser24015fs)
NM_001267550.2(TTN):c.72307dup (p.Thr24103fs)
NM_001267550.2(TTN):c.72728G>A (p.Trp24243Ter)
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.73180G>T (p.Glu24394Ter)
NM_001267550.2(TTN):c.73210del (p.Ser24404fs)
NM_001267550.2(TTN):c.73867dup (p.Ile24623fs)
NM_001267550.2(TTN):c.74112dup (p.Val24705fs)
NM_001267550.2(TTN):c.74246G>A (p.Trp24749Ter)
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter) rs780415493
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75491_75494dup (p.Phe25165fs)
NM_001267550.2(TTN):c.75542_75554del (p.Asn25181fs)
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76596del (p.Pro25533fs)
NM_001267550.2(TTN):c.76629del (p.Lys25543fs)
NM_001267550.2(TTN):c.76709dup (p.Asn25570fs)
NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter) rs2154167332
NM_001267550.2(TTN):c.78452C>G (p.Ser26151Ter)
NM_001267550.2(TTN):c.78552del (p.Lys26185fs)
NM_001267550.2(TTN):c.78817_78823del (p.Gly26273fs)
NM_001267550.2(TTN):c.78839del (p.Asn26280fs)
NM_001267550.2(TTN):c.79070_79071del (p.Tyr26357fs)
NM_001267550.2(TTN):c.79221G>A (p.Trp26407Ter)
NM_001267550.2(TTN):c.79434T>A (p.Tyr26478Ter)
NM_001267550.2(TTN):c.79470del (p.Pro26491fs)
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79739del (p.Thr26580fs)
NM_001267550.2(TTN):c.80541dup (p.Glu26848fs)
NM_001267550.2(TTN):c.80849dup (p.Tyr26950Ter)
NM_001267550.2(TTN):c.80981G>A (p.Trp26994Ter)
NM_001267550.2(TTN):c.8103del (p.Lys2701fs)
NM_001267550.2(TTN):c.81328G>T (p.Glu27110Ter)
NM_001267550.2(TTN):c.81476del (p.Ser27159fs)
NM_001267550.2(TTN):c.81487G>T (p.Glu27163Ter)
NM_001267550.2(TTN):c.81758_81762delinsCCATCTGCATTTCTTGCAAACTCTAA (p.Asn27253_Phe27254delinsThrIleCysIleSerCysLysLeuTer)
NM_001267550.2(TTN):c.82429G>T (p.Glu27477Ter)
NM_001267550.2(TTN):c.83340del (p.Asp27781fs)
NM_001267550.2(TTN):c.83629del (p.Arg27877fs)
NM_001267550.2(TTN):c.83658del (p.Lys27886fs)
NM_001267550.2(TTN):c.83992_84016del (p.Lys27998fs)
NM_001267550.2(TTN):c.84050dup (p.Thr28018fs)
NM_001267550.2(TTN):c.84163A>T (p.Arg28055Ter)
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs) rs1553565316
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs) rs1559301344
NM_001267550.2(TTN):c.84438dup (p.Val28147fs)
NM_001267550.2(TTN):c.84480dup (p.Pro28161fs)
NM_001267550.2(TTN):c.85174dup (p.Ala28392fs)
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter) rs769664554
NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)
NM_001267550.2(TTN):c.85899_85900del (p.Leu28635fs)
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.85978dup (p.Ile28660fs)
NM_001267550.2(TTN):c.86163T>A (p.Tyr28721Ter)
NM_001267550.2(TTN):c.86821+1G>C
NM_001267550.2(TTN):c.87021_87022del (p.Asn29008fs)
NM_001267550.2(TTN):c.87225dup (p.Val29076fs)
NM_001267550.2(TTN):c.87477G>A (p.Trp29159Ter)
NM_001267550.2(TTN):c.87531_87532del (p.Glu29179fs)
NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)
NM_001267550.2(TTN):c.87567_87570delinsCAC (p.Ala29190fs)
NM_001267550.2(TTN):c.8758G>T (p.Glu2920Ter)
NM_001267550.2(TTN):c.87757del (p.Ser29253fs)
NM_001267550.2(TTN):c.88688del (p.Gly29563fs)
NM_001267550.2(TTN):c.88696del (p.Ile29566fs) rs1064796323
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89054_89069del (p.Lys29685fs)
NM_001267550.2(TTN):c.89118_89119del (p.Tyr29706_Arg29707delinsTer)
NM_001267550.2(TTN):c.89730T>A (p.Tyr29910Ter)
NM_001267550.2(TTN):c.90486_90489del (p.Ile30163fs) rs2154151260
NM_001267550.2(TTN):c.91222_91231del (p.Ser30408fs)
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.91932dup (p.Leu30645fs)
NM_001267550.2(TTN):c.9205del (p.Val3069fs)
NM_001267550.2(TTN):c.92278del (p.Glu30760fs)
NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92883del (p.Lys30961fs)
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93850G>T (p.Gly31284Ter)
NM_001267550.2(TTN):c.94099C>T (p.Gln31367Ter)
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94108del (p.Val31370fs)
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.94394_94397delinsTA (p.Glu31465fs)
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94740T>G (p.Tyr31580Ter)
NM_001267550.2(TTN):c.95232del (p.Ile31744fs)
NM_001267550.2(TTN):c.95358_95361del (p.Lys31787fs)
NM_001267550.2(TTN):c.95833del (p.Val31945fs)
NM_001267550.2(TTN):c.96675_96676delinsG (p.Pro32226fs)
NM_001267550.2(TTN):c.97148dup (p.Asn32383fs)
NM_001267550.2(TTN):c.97282_97294del (p.Asp32427_Gly32428insTer)
NM_001267550.2(TTN):c.97287del (p.Ala32430fs)
NM_001267550.2(TTN):c.97336G>T (p.Gly32446Ter)
NM_001267550.2(TTN):c.97417del (p.Arg32473fs)
NM_001267550.2(TTN):c.97474G>T (p.Glu32492Ter)
NM_001267550.2(TTN):c.98299del (p.Arg32767fs) rs772061676
NM_001267550.2(TTN):c.98303del (p.Gly32768fs)
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98666del (p.Thr32889fs)
NM_001267550.2(TTN):c.99085G>T (p.Glu33029Ter)
NM_001267550.2(TTN):c.99323_99326del (p.Lys33108fs)
NM_001267550.2(TTN):c.99578dup (p.Pro33194fs)
NM_001267550.2(TTN):c.99862C>T (p.Gln33288Ter)

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