List of variants in gene combination LOC126806433, 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: 98

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)	rs75031300	0.00287
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)	rs145039979	0.00021
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)	rs142129359	0.00016
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)	rs772093035	0.00013
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)	rs779064962	0.00011
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)	rs147580120	0.00010
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)	rs148920986	0.00010
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)	rs374615369	0.00008
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)	rs764882950	0.00006
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp)	rs142926566	0.00006
NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys)	rs369407160	0.00006
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)	rs776478343	0.00004
NM_001267550.2(TTN):c.7117G>T (p.Val2373Phe)	rs759496021	0.00004
NM_001267550.2(TTN):c.7180G>C (p.Glu2394Gln)	rs537269762	0.00004
NM_001267550.2(TTN):c.7331-3C>T	rs772008843	0.00004
NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr)	rs759448340	0.00004
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)	rs145649088	0.00003
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His)	rs761566436	0.00003
NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met)	rs760633130	0.00003
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly)	rs749655939	0.00003
NM_001267550.2(TTN):c.7159G>A (p.Val2387Ile)	rs377691143	0.00003
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg)	rs145585333	0.00002
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr)	rs577966527	0.00002
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)	rs879103814	0.00002
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys)	rs750101152	0.00002
NM_001267550.2(TTN):c.7057+1G>A	rs763909866	0.00002
NM_001267550.2(TTN):c.7057+2dup	rs765019023	0.00002
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)	rs565784637	0.00002
NM_001267550.2(TTN):c.6791-11A>G	rs368202177	0.00001
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala)	rs143679901	0.00001
NM_001267550.2(TTN):c.6844T>C (p.Tyr2282His)	rs727503691	0.00001
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser)	rs754307416	0.00001
NM_001267550.2(TTN):c.6851G>C (p.Gly2284Ala)	rs751111175	0.00001
NM_001267550.2(TTN):c.6866T>G (p.Ile2289Ser)	rs200440412	0.00001
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr)	rs397517708	0.00001
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr)	rs1554002409	0.00001
NM_001267550.2(TTN):c.6994G>A (p.Asp2332Asn)	rs771180382	0.00001
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)	rs777101912	0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)	rs374509926	0.00001
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn)	rs1383990376	0.00001
NM_001267550.2(TTN):c.7315C>T (p.Arg2439Cys)	rs747598377	0.00001
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu)	rs1362423521	0.00001
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys)	rs200131545	0.00001
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp)	rs1554002953
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)	rs145649088
NM_001267550.2(TTN):c.6826A>G (p.Ile2276Val)	rs794729578
NM_001267550.2(TTN):c.6832G>T (p.Val2278Phe)
NM_001267550.2(TTN):c.6835C>T (p.Pro2279Ser)	rs143679901
NM_001267550.2(TTN):c.6855A>C (p.Glu2285Asp)	rs2091955390
NM_001267550.2(TTN):c.6884T>C (p.Ile2295Thr)	rs1561265332
NM_001267550.2(TTN):c.6885A>G (p.Ile2295Met)
NM_001267550.2(TTN):c.6890G>A (p.Gly2297Glu)
NM_001267550.2(TTN):c.6899A>T (p.Tyr2300Phe)
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys)	rs367761468
NM_001267550.2(TTN):c.6913G>C (p.Glu2305Gln)
NM_001267550.2(TTN):c.6938C>G (p.Thr2313Arg)	rs794729579
NM_001267550.2(TTN):c.6940A>G (p.Ile2314Val)	rs2091945518
NM_001267550.2(TTN):c.6973G>A (p.Val2325Ile)
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)	rs587780986
NM_001267550.2(TTN):c.7021G>A (p.Asp2341Asn)
NM_001267550.2(TTN):c.7057+5G>T
NM_001267550.2(TTN):c.7057C>T (p.Pro2353Ser)
NM_001267550.2(TTN):c.7058-2A>G
NM_001267550.2(TTN):c.7099G>A (p.Val2367Ile)
NM_001267550.2(TTN):c.7104T>G (p.Cys2368Trp)	rs1485265360
NM_001267550.2(TTN):c.7124T>C (p.Leu2375Pro)
NM_001267550.2(TTN):c.7133A>G (p.Lys2378Arg)	rs727503690
NM_001267550.2(TTN):c.7144G>A (p.Glu2382Lys)	rs1561260919
NM_001267550.2(TTN):c.7150G>A (p.Val2384Met)
NM_001267550.2(TTN):c.7166T>A (p.Met2389Lys)
NM_001267550.2(TTN):c.7198A>G (p.Arg2400Gly)
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr)	rs760895168
NM_001267550.2(TTN):c.7214T>C (p.Ile2405Thr)
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)	rs777244038
NM_001267550.2(TTN):c.7226C>A (p.Ser2409Tyr)
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro)	rs747828487
NM_001267550.2(TTN):c.7229A>G (p.His2410Arg)
NM_001267550.2(TTN):c.7286T>C (p.Ile2429Thr)
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe)	rs879004898
NM_001267550.2(TTN):c.7301T>G (p.Leu2434Arg)
NM_001267550.2(TTN):c.7330+12T>C	rs2154344841
NM_001267550.2(TTN):c.7330+5G>A	rs869025547
NM_001267550.2(TTN):c.7330+5G>C	rs869025547
NM_001267550.2(TTN):c.7363A>G (p.Asn2455Asp)
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys)	rs777738635
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)	rs794729397
NM_001267550.2(TTN):c.7368G>C (p.Val2456=)	rs886055301
NM_001267550.2(TTN):c.7391_7393dup (p.Leu2464_Glu2465insVal)	rs794729371
NM_001267550.2(TTN):c.7397G>C (p.Cys2466Ser)
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala)	rs886055300
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile)	rs1228257559
NM_001267550.2(TTN):c.7417G>A (p.Val2473Met)
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter)	rs1561254509
NM_001267550.2(TTN):c.7435T>G (p.Tyr2479Asp)
NM_001267550.2(TTN):c.7436A>G (p.Tyr2479Cys)	rs1554000863
NM_001267550.2(TTN):c.7459C>T (p.Pro2487Ser)
NM_001267550.2(TTN):c.7467C>A (p.Asp2489Glu)
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)	rs148920986

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