List of variants in gene combination LOC126806428, TTN reported as likely benign for autosomal recessive disease

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: 87

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)	rs114626713	0.00491
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)	rs72648964	0.00354
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)	rs200594798	0.00073
NM_001267550.2(TTN):c.21404-4A>G	rs72648965	0.00051
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	rs201394117	0.00042
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)	rs202089818	0.00039
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)	rs553548392	0.00014
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)	rs372264428	0.00008
NM_001267550.2(TTN):c.20837-12G>A	rs534822724	0.00006
NM_001267550.2(TTN):c.20837-13C>T	rs375396510	0.00005
NM_001267550.2(TTN):c.20868G>A (p.Pro6956=)	rs367929968	0.00004
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=)	rs765956215	0.00004
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)	rs727504579	0.00004
NM_001267550.2(TTN):c.21099T>G (p.Ala7033=)	rs377748909	0.00004
NM_001267550.2(TTN):c.21013T>C (p.Leu7005=)	rs774841915	0.00003
NM_001267550.2(TTN):c.21132C>T (p.Pro7044=)	rs1393914410	0.00003
NM_001267550.2(TTN):c.21363C>T (p.Val7121=)	rs751090506	0.00003
NM_001267550.2(TTN):c.21116-4A>G	rs375874660	0.00002
NM_001267550.2(TTN):c.20841C>T (p.Pro6947=)	rs768971707	0.00001
NM_001267550.2(TTN):c.20892G>A (p.Thr6964=)	rs727504623	0.00001
NM_001267550.2(TTN):c.20937T>C (p.Val6979=)	rs2078985500	0.00001
NM_001267550.2(TTN):c.21115+8C>T	rs1199697682	0.00001
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)	rs878903172	0.00001
NM_001267550.2(TTN):c.21279A>G (p.Thr7093=)	rs727504765	0.00001
NM_001267550.2(TTN):c.21348C>T (p.Cys7116=)	rs750661972	0.00001
NM_001267550.2(TTN):c.21354T>G (p.Ala7118=)	rs754163259	0.00001
NM_001267550.2(TTN):c.21403+9A>T	rs1456074713	0.00001
NM_001267550.2(TTN):c.21417T>C (p.Phe7139=)	rs886042283	0.00001
NM_001267550.2(TTN):c.20837-12G>T
NM_001267550.2(TTN):c.20837-20G>T
NM_001267550.2(TTN):c.20847C>T (p.Val6949=)
NM_001267550.2(TTN):c.20859G>A (p.Lys6953=)
NM_001267550.2(TTN):c.20868G>T (p.Pro6956=)
NM_001267550.2(TTN):c.20874G>C (p.Thr6958=)
NM_001267550.2(TTN):c.20892G>C (p.Thr6964=)	rs727504623
NM_001267550.2(TTN):c.20895C>T (p.Cys6965=)
NM_001267550.2(TTN):c.20901G>A (p.Leu6967=)	rs2154303631
NM_001267550.2(TTN):c.20931C>G (p.Leu6977=)
NM_001267550.2(TTN):c.20959C>T (p.Leu6987=)
NM_001267550.2(TTN):c.20970C>T (p.Ser6990=)
NM_001267550.2(TTN):c.20985A>G (p.Lys6995=)	rs2154303574
NM_001267550.2(TTN):c.21000C>T (p.Asn7000=)	rs2154303562
NM_001267550.2(TTN):c.21012C>T (p.Ser7004=)
NM_001267550.2(TTN):c.21045A>G (p.Ala7015=)
NM_001267550.2(TTN):c.21051A>C (p.Thr7017=)
NM_001267550.2(TTN):c.21051A>G (p.Thr7017=)
NM_001267550.2(TTN):c.21051A>T (p.Thr7017=)
NM_001267550.2(TTN):c.21072T>C (p.Asn7024=)
NM_001267550.2(TTN):c.21075T>C (p.Asn7025=)
NM_001267550.2(TTN):c.21115+10G>A
NM_001267550.2(TTN):c.21115+13G>A
NM_001267550.2(TTN):c.21115+17T>C
NM_001267550.2(TTN):c.21116-17T>A	rs2154303373
NM_001267550.2(TTN):c.21116-4del	rs1553913568
NM_001267550.2(TTN):c.21116-6A>C
NM_001267550.2(TTN):c.21126T>C (p.Val7042=)
NM_001267550.2(TTN):c.21147A>G (p.Arg7049=)
NM_001267550.2(TTN):c.21162T>C (p.Gly7054=)	rs1553913456
NM_001267550.2(TTN):c.21165G>T (p.Gly7055=)
NM_001267550.2(TTN):c.21216T>C (p.Pro7072=)	rs2154303288
NM_001267550.2(TTN):c.21222A>T (p.Ser7074=)
NM_001267550.2(TTN):c.21228C>T (p.Ala7076=)	rs2154303274
NM_001267550.2(TTN):c.21237T>C (p.His7079=)
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=)	rs1553913320
NM_001267550.2(TTN):c.21249G>A (p.Lys7083=)
NM_001267550.2(TTN):c.21300A>G (p.Thr7100=)
NM_001267550.2(TTN):c.21307T>C (p.Leu7103=)
NM_001267550.2(TTN):c.21345A>C (p.Thr7115=)	rs758613310
NM_001267550.2(TTN):c.21345A>G (p.Thr7115=)
NM_001267550.2(TTN):c.21351G>A (p.Val7117=)
NM_001267550.2(TTN):c.21357T>C (p.Ala7119=)
NM_001267550.2(TTN):c.21375T>C (p.Asp7125=)
NM_001267550.2(TTN):c.21381T>C (p.Cys7127=)	rs2154303179
NM_001267550.2(TTN):c.21399A>G (p.Val7133=)
NM_001267550.2(TTN):c.21403+10C>T	rs2154303147
NM_001267550.2(TTN):c.21403+14C>A	rs2078868212
NM_001267550.2(TTN):c.21403+7A>G	rs2154303156
NM_001267550.2(TTN):c.21403+8G>T
NM_001267550.2(TTN):c.21403+9A>G
NM_001267550.2(TTN):c.21404-16C>G
NM_001267550.2(TTN):c.21404-3dup
NM_001267550.2(TTN):c.21404-5T>C
NM_001267550.2(TTN):c.21404-6A>C
NM_001267550.2(TTN):c.21404-6A>G
NM_001267550.2(TTN):c.21444A>G (p.Val7148=)	rs1578047350
NM_001267550.2(TTN):c.21450A>G (p.Pro7150=)	rs2154302980
NM_001267550.2(TTN):c.21453C>G (p.Gly7151=)	rs1450991403

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