List of variants in gene TTN reported as uncertain significance by Blueprint Genetics

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)	rs72650011	0.00378
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)	rs201218828	0.00113
NM_001267550.2(TTN):c.2775+4G>A	rs548681281	0.00086
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)	rs72650064	0.00049
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln)	rs202076328	0.00033
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)	rs199557654	0.00026
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)	rs199620003	0.00014
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)	rs730880239	0.00010
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile)	rs375533809	0.00009
NM_133379.5(TTN):c.13939del (p.Glu4647fs)	rs781363456	0.00006
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)	rs200325324	0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)	rs727505175	0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)	rs201273719	0.00003
NM_001267550.2(TTN):c.29962+1G>T	rs774961188	0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)	rs587780983	0.00002
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)	rs370728359	0.00001
NM_001267550.2(TTN):c.56963-3C>T	rs375979145	0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala)	rs587782985	0.00001
NM_001267550.2(TTN):c.11657del (p.Asp3886fs)	rs397517826
NM_001267550.2(TTN):c.12027T>G (p.Tyr4009Ter)	rs587782984
NM_001267550.2(TTN):c.23711A>T (p.Asn7904Ile)	rs766762625
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)	rs368327166
NM_001267550.2(TTN):c.34132del (p.Leu11378fs)	rs869025551
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)	rs397517549
NM_001267550.2(TTN):c.39032del (p.Pro13011fs)	rs1576980363
NM_001267550.2(TTN):c.40408+8del	rs727504922
NM_001267550.2(TTN):c.45688G>A (p.Glu15230Lys)	rs730880238
NM_001267550.2(TTN):c.53519A>G (p.Lys17840Arg)	rs730880240
NM_001267550.2(TTN):c.57847+5_57847+8del	rs587782988
NM_001267550.2(TTN):c.752A>G (p.His251Arg)	rs587782983
NM_001267550.2(TTN):c.86277A>G (p.Glu28759=)	rs1335123374
NM_133379.5(TTN):c.11794G>T (p.Glu3932Ter)	rs869025543
NM_133379.5(TTN):c.16515_16516insA (p.Glu5506fs)	rs730880247

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