List of variants in gene combination LOC126806423, TTN reported as uncertain significance

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)	rs185620750	0.00031
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)	rs375538420	0.00027
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)	rs79406408	0.00024
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)	rs72646877	0.00016
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)	rs375676529	0.00012
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)	rs374492812	0.00011
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)	rs200146608	0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)	rs199583938	0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)	rs200493270	0.00010
NM_001267550.2(TTN):c.68225-5T>C	rs758273663	0.00009
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)	rs727504520	0.00008
NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys)	rs371105318	0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)	rs727503575	0.00006
NM_001267550.2(TTN):c.67637-4A>G	rs376053678	0.00005
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)	rs534340303	0.00005
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu)	rs763002536	0.00004
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)	rs775731759	0.00004
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)	rs755897447	0.00004
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg)	rs761210578	0.00004
NM_001267550.2(TTN):c.68272G>A (p.Asp22758Asn)	rs397517675	0.00003
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)	rs563233842	0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)	rs397517669	0.00002
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)	rs767993624	0.00002
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)	rs776797528	0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)	rs775579156	0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)	rs548223512	0.00002
NM_001267550.2(TTN):c.68228T>G (p.Val22743Gly)	rs377290384	0.00002
NM_001267550.2(TTN):c.67522T>A (p.Tyr22508Asn)	rs763377678	0.00001
NM_001267550.2(TTN):c.67569G>A (p.Val22523=)	rs376719475	0.00001
NM_001267550.2(TTN):c.67750T>G (p.Trp22584Gly)	rs762387858	0.00001
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)	rs1326950042	0.00001
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)	rs757888367	0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)	rs144295295	0.00001
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe)	rs1485610846	0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)	rs758700425	0.00001
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)	rs767279296	0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)	rs727505352	0.00001
NM_001267550.2(TTN):c.68224+3A>G	rs1006017098	0.00001
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser)	rs764562311	0.00001
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser)	rs761226149	0.00001
NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe)	rs397517676	0.00001
NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro)	rs1359881893	0.00001
NM_001267550.2(TTN):c.68300C>T (p.Pro22767Leu)	rs775953148	0.00001
NM_001267550.2(TTN):c.67445G>T (p.Arg22482Leu)
NM_001267550.2(TTN):c.67451T>C (p.Ile22484Thr)
NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile)	rs1553622498
NM_001267550.2(TTN):c.67495C>G (p.Arg22499Gly)	rs574660186
NM_001267550.2(TTN):c.67499T>G (p.Val22500Gly)	rs760079543
NM_001267550.2(TTN):c.67503G>A (p.Met22501Ile)
NM_001267550.2(TTN):c.67522T>C (p.Tyr22508His)	rs763377678
NM_001267550.2(TTN):c.67541C>G (p.Thr22514Ser)
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met)	rs1553622336
NM_001267550.2(TTN):c.67565G>C (p.Arg22522Thr)	rs1221271318
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)	rs397517670
NM_001267550.2(TTN):c.67574C>T (p.Ala22525Val)	rs781320550
NM_001267550.2(TTN):c.67591G>A (p.Glu22531Lys)	rs1559489746
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala)	rs1553622176
NM_001267550.2(TTN):c.67636+1G>A
NM_001267550.2(TTN):c.67636+2_67636+3insC	rs2047225762
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met)	rs794729244
NM_001267550.2(TTN):c.67637-1G>T
NM_001267550.2(TTN):c.67648C>T (p.Leu22550Phe)
NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg)	rs769525101
NM_001267550.2(TTN):c.67683G>C (p.Leu22561Phe)	rs876658076
NM_001267550.2(TTN):c.67726G>A (p.Gly22576Ser)
NM_001267550.2(TTN):c.67741T>A (p.Ser22581Thr)
NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)
NM_001267550.2(TTN):c.67787G>C (p.Arg22596Thr)	rs1197078573
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro)	rs780276317
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile)	rs1254285646
NM_001267550.2(TTN):c.67820C>T (p.Thr22607Ile)
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu)	rs886055252
NM_001267550.2(TTN):c.67900G>A (p.Gly22634Arg)
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile)	rs750093105
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala)	rs1060500506
NM_001267550.2(TTN):c.67926C>T (p.Gly22642=)
NM_001267550.2(TTN):c.67958T>A (p.Phe22653Tyr)
NM_001267550.2(TTN):c.67959T>A (p.Phe22653Leu)
NM_001267550.2(TTN):c.68003C>A (p.Pro22668Gln)
NM_001267550.2(TTN):c.68035T>C (p.Tyr22679His)	rs763134196
NM_001267550.2(TTN):c.68044G>C (p.Glu22682Gln)
NM_001267550.2(TTN):c.68048A>G (p.Lys22683Arg)
NM_001267550.2(TTN):c.68051G>A (p.Arg22684Lys)
NM_001267550.2(TTN):c.68059G>T (p.Val22687Leu)
NM_001267550.2(TTN):c.68064CAA[1] (p.Asn22689del)
NM_001267550.2(TTN):c.68065A>G (p.Asn22689Asp)	rs786205382
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser)	rs375397094
NM_001267550.2(TTN):c.68074G>T (p.Val22692Leu)
NM_001267550.2(TTN):c.68092G>T (p.Val22698Phe)
NM_001267550.2(TTN):c.68105C>T (p.Thr22702Ile)	rs1404079334
NM_001267550.2(TTN):c.68137G>A (p.Glu22713Lys)	rs895744220
NM_001267550.2(TTN):c.68144C>A (p.Thr22715Asn)
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile)	rs1553620392
NM_001267550.2(TTN):c.68186G>T (p.Gly22729Val)
NM_001267550.2(TTN):c.68189T>C (p.Leu22730Pro)
NM_001267550.2(TTN):c.68198A>C (p.Glu22733Ala)
NM_001267550.2(TTN):c.68215C>T (p.His22739Tyr)
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)	rs886039082
NM_001267550.2(TTN):c.68224+3_68224+6del
NM_001267550.2(TTN):c.68224+5G>A
NM_001267550.2(TTN):c.68225-1G>C	rs1575854773
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
NM_001267550.2(TTN):c.68236G>A (p.Ala22746Thr)
NM_001267550.2(TTN):c.68251A>C (p.Asn22751His)	rs727504970
NM_001267550.2(TTN):c.68260G>A (p.Asp22754Asn)
NM_001267550.2(TTN):c.68314G>C (p.Gly22772Arg)	rs1559480997
NM_001267550.2(TTN):c.68321C>T (p.Pro22774Leu)	rs886042240
NM_001267550.2(TTN):c.68323A>G (p.Ile22775Val)
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)	rs1553619783
NM_001267550.2(TTN):c.68329+2_68329+3insTT	rs536078303
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg)	rs2154174748

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.