ClinVar Miner

List of variants in gene combination LOC126806428, TTN reported as likely benign for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 85
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HGVS dbSNP gnomAD frequency
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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