List of variants in gene combination LOC126806423, TTN reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2J

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: 105

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)	rs11904444	0.00481
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)	rs72646876	0.00048
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)	rs375538420	0.00027
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)	rs72646877	0.00016
NM_001267550.2(TTN):c.68211G>A (p.Ala22737=)	rs536824562	0.00011
NM_001267550.2(TTN):c.68225-5T>C	rs758273663	0.00009
NM_001267550.2(TTN):c.67636+11A>G	rs185898410	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.67537T>C (p.Leu22513=)	rs727504507	0.00003
NM_001267550.2(TTN):c.67637-6T>C	rs759070877	0.00003
NM_001267550.2(TTN):c.68154C>T (p.Val22718=)	rs755685437	0.00003
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)	rs563233842	0.00002
NM_001267550.2(TTN):c.67731G>A (p.Lys22577=)	rs1459363772	0.00002
NM_001267550.2(TTN):c.67737T>G (p.Ala22579=)	rs765975995	0.00002
NM_001267550.2(TTN):c.67428C>T (p.His22476=)	rs772184456	0.00001
NM_001267550.2(TTN):c.67569G>A (p.Val22523=)	rs376719475	0.00001
NM_001267550.2(TTN):c.67637-9A>G	rs2047164551	0.00001
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=)	rs397517671	0.00001
NM_001267550.2(TTN):c.67692A>G (p.Glu22564=)	rs780239325	0.00001
NM_001267550.2(TTN):c.67743A>T (p.Ser22581=)	rs2047137031	0.00001
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)	rs1326950042	0.00001
NM_001267550.2(TTN):c.67827A>C (p.Ile22609=)	rs751153093	0.00001
NM_001267550.2(TTN):c.67914A>C (p.Ile22638=)	rs878934438	0.00001
NM_001267550.2(TTN):c.67923T>C (p.Val22641=)	rs759628511	0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)	rs144295295	0.00001
NM_001267550.2(TTN):c.67980C>T (p.Ala22660=)	rs756764696	0.00001
NM_001267550.2(TTN):c.68010T>C (p.Asp22670=)	rs767755200	0.00001
NM_001267550.2(TTN):c.68040C>T (p.Ile22680=)	rs1422070023	0.00001
NM_001267550.2(TTN):c.68052G>A (p.Arg22684=)	rs770247697	0.00001
NM_001267550.2(TTN):c.68067C>T (p.Asn22689=)	rs777832243	0.00001
NM_001267550.2(TTN):c.68142T>C (p.Tyr22714=)	rs377007499	0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)	rs397517673	0.00001
NM_001267550.2(TTN):c.68181G>A (p.Gly22727=)	rs2047051742	0.00001
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)	rs397517674	0.00001
NM_001267550.2(TTN):c.68199G>A (p.Glu22733=)	rs375672522	0.00001
NM_001267550.2(TTN):c.68224+20A>G	rs753714710	0.00001
NM_001267550.2(TTN):c.68225-9T>A	rs780964424	0.00001
NM_001267550.2(TTN):c.68304G>A (p.Lys22768=)	rs776267206	0.00001
NM_001267550.2(TTN):c.67446G>A (p.Arg22482=)	rs2154175758
NM_001267550.2(TTN):c.67458T>C (p.Tyr22486=)
NM_001267550.2(TTN):c.67485T>C (p.Asn22495=)	rs2154175738
NM_001267550.2(TTN):c.67488G>A (p.Lys22496=)	rs2154175733
NM_001267550.2(TTN):c.67495C>A (p.Arg22499=)
NM_001267550.2(TTN):c.67548G>A (p.Gly22516=)	rs1437157451
NM_001267550.2(TTN):c.67557T>C (p.Tyr22519=)
NM_001267550.2(TTN):c.67575T>A (p.Ala22525=)
NM_001267550.2(TTN):c.67575T>G (p.Ala22525=)	rs755060136
NM_001267550.2(TTN):c.67587T>C (p.Asn22529=)	rs1057523544
NM_001267550.2(TTN):c.67605C>T (p.Ser22535=)	rs750847940
NM_001267550.2(TTN):c.67614T>C (p.Thr22538=)	rs1180310461
NM_001267550.2(TTN):c.67620G>A (p.Val22540=)
NM_001267550.2(TTN):c.67636+12T>C
NM_001267550.2(TTN):c.67636+12T>G
NM_001267550.2(TTN):c.67636+17A>C
NM_001267550.2(TTN):c.67636+19A>G
NM_001267550.2(TTN):c.67637-14C>G
NM_001267550.2(TTN):c.67637-19del
NM_001267550.2(TTN):c.67637-20T>C
NM_001267550.2(TTN):c.67637-8T>C
NM_001267550.2(TTN):c.67653C>T (p.Asp22551=)
NM_001267550.2(TTN):c.67665A>G (p.Leu22555=)
NM_001267550.2(TTN):c.67707G>C (p.Arg22569=)
NM_001267550.2(TTN):c.67716C>A (p.Ile22572=)	rs754283751
NM_001267550.2(TTN):c.67716C>T (p.Ile22572=)	rs754283751
NM_001267550.2(TTN):c.67782C>T (p.Asp22594=)	rs1575865334
NM_001267550.2(TTN):c.67794T>C (p.Ser22598=)	rs960274505
NM_001267550.2(TTN):c.67800G>A (p.Glu22600=)
NM_001267550.2(TTN):c.67836T>C (p.Asp22612=)	rs1375493430
NM_001267550.2(TTN):c.67839C>T (p.Cys22613=)	rs2154175290
NM_001267550.2(TTN):c.67854T>C (p.Ala22618=)
NM_001267550.2(TTN):c.67866A>C (p.Thr22622=)	rs1559485882
NM_001267550.2(TTN):c.67887T>G (p.Ala22629=)	rs2154175252
NM_001267550.2(TTN):c.67905T>G (p.Thr22635=)	rs2154175245
NM_001267550.2(TTN):c.67932T>A (p.Pro22644=)	rs2154175212
NM_001267550.2(TTN):c.67962T>C (p.Asp22654=)	rs779729130
NM_001267550.2(TTN):c.67965A>G (p.Glu22655=)	rs2154175172
NM_001267550.2(TTN):c.67971A>G (p.Thr22657=)	rs2154175166
NM_001267550.2(TTN):c.67977A>G (p.Glu22659=)
NM_001267550.2(TTN):c.67980C>G (p.Ala22660=)	rs756764696
NM_001267550.2(TTN):c.68034C>T (p.Asn22678=)	rs1553620816
NM_001267550.2(TTN):c.68043A>G (p.Leu22681=)
NM_001267550.2(TTN):c.68061G>C (p.Val22687=)
NM_001267550.2(TTN):c.68091T>C (p.Ala22697=)
NM_001267550.2(TTN):c.68163A>G (p.Glu22721=)
NM_001267550.2(TTN):c.68169A>G (p.Lys22723=)
NM_001267550.2(TTN):c.68172T>C (p.Tyr22724=)
NM_001267550.2(TTN):c.68220A>G (p.Pro22740=)
NM_001267550.2(TTN):c.68224+12A>G
NM_001267550.2(TTN):c.68225-10T>C	rs1378546349
NM_001267550.2(TTN):c.68225-12A>G
NM_001267550.2(TTN):c.68225-15T>C
NM_001267550.2(TTN):c.68225-18T>C	rs1416277306
NM_001267550.2(TTN):c.68225-6T>A
NM_001267550.2(TTN):c.68225-8T>C
NM_001267550.2(TTN):c.68229G>C (p.Val22743=)
NM_001267550.2(TTN):c.68229G>T (p.Val22743=)
NM_001267550.2(TTN):c.68232T>C (p.Pro22744=)
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=)	rs757244505
NM_001267550.2(TTN):c.68262T>C (p.Asp22754=)	rs2047008596
NM_001267550.2(TTN):c.68266A>C (p.Arg22756=)	rs2154174824
NM_001267550.2(TTN):c.68271C>T (p.His22757=)	rs750271244
NM_001267550.2(TTN):c.68310T>C (p.Thr22770=)
NM_001267550.2(TTN):c.68329+11T>A
NM_001267550.2(TTN):c.68329+8G>T	rs1026061408

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