List of variants in gene combination LOC126806426, TTN reported as uncertain significance for autosomal recessive disease

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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: 34

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	rs72677242	0.00641
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	rs72677243	0.00094
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)	rs201793958	0.00034
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)	rs200944827	0.00013
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)	rs368806005	0.00012
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)	rs199768159	0.00009
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)	rs541384076	0.00008
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn)	rs199954570	0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)	rs372911542	0.00006
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)	rs376188859	0.00004
NM_001267550.2(TTN):c.49129G>A (p.Asp16377Asn)	rs757542062	0.00003
NM_001267550.2(TTN):c.48983C>T (p.Thr16328Ile)	rs770839243	0.00002
NM_001267550.2(TTN):c.48842C>T (p.Thr16281Ile)	rs1553703631	0.00001
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile)	rs754110019	0.00001
NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln)	rs558487304	0.00001
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys)	rs772152172	0.00001
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys)	rs764682084	0.00001
NM_001267550.2(TTN):c.48638+5G>T	rs397517594
NM_001267550.2(TTN):c.48638+5del	rs2057135287
NM_001267550.2(TTN):c.48639-3C>A	rs923663993
NM_001267550.2(TTN):c.48668A>C (p.Lys16223Thr)	rs1553704101
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser)	rs886055270
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)	rs72677242
NM_001267550.2(TTN):c.48760+8T>C	rs2057012531
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)	rs368527534
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser)	rs894986526
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile)	rs878948684
NM_001267550.2(TTN):c.49048+4A>G	rs766931932
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr)	rs794729446
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu)	rs750310775
NM_001267550.2(TTN):c.49183A>G (p.Ser16395Gly)	rs2056873203
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile)	rs2056867382
NM_001267550.2(TTN):c.49241A>G (p.Lys16414Arg)	rs1329659749

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