ClinVar Miner

List of variants in gene combination LOC126806431, TTN reported as likely benign for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.17478C>T (p.Thr5826=) rs376968974 0.00011
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=) rs200984007 0.00009
NM_001267550.2(TTN):c.16989T>C (p.Thr5663=) rs879099217 0.00004
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln) rs753892271 0.00003
NM_001267550.2(TTN):c.16904-8T>A rs774983607 0.00002
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=) rs770260995 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.17442T>C (p.Ser5814=) rs770532942 0.00002
NM_001267550.2(TTN):c.17565A>G (p.Lys5855=) rs745763221 0.00002
NM_001267550.2(TTN):c.16854C>T (p.Ala5618=) rs769489900 0.00001
NM_001267550.2(TTN):c.16893A>G (p.Val5631=) rs757393270 0.00001
NM_001267550.2(TTN):c.16956C>T (p.Tyr5652=) rs755186242 0.00001
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=) rs750996600 0.00001
NM_001267550.2(TTN):c.17145G>T (p.Val5715=) rs1199177902 0.00001
NM_001267550.2(TTN):c.17183-13A>T rs768911428 0.00001
NM_001267550.2(TTN):c.17301C>T (p.Ser5767=) rs777677229 0.00001
NM_001267550.2(TTN):c.17346C>T (p.Asn5782=) rs535281449 0.00001
NM_001267550.2(TTN):c.17445A>G (p.Ala5815=) rs1227218365 0.00001
NM_001267550.2(TTN):c.17461+14G>A rs751425418 0.00001
NM_001267550.2(TTN):c.17556T>C (p.Ile5852=) rs370776424 0.00001
NM_001267550.2(TTN):c.17577T>C (p.Asp5859=) rs1419421654 0.00001
NM_001267550.2(TTN):c.16782T>C (p.Phe5594=)
NM_001267550.2(TTN):c.16854C>A (p.Ala5618=) rs769489900
NM_001267550.2(TTN):c.16878C>T (p.His5626=)
NM_001267550.2(TTN):c.16893A>C (p.Val5631=) rs757393270
NM_001267550.2(TTN):c.16903+16G>T
NM_001267550.2(TTN):c.16903+18C>T
NM_001267550.2(TTN):c.16904-15C>T
NM_001267550.2(TTN):c.16904-4G>A rs778611530
NM_001267550.2(TTN):c.16904-7A>G
NM_001267550.2(TTN):c.16917T>C (p.Phe5639=)
NM_001267550.2(TTN):c.16971G>A (p.Leu5657=)
NM_001267550.2(TTN):c.16971G>T (p.Leu5657=)
NM_001267550.2(TTN):c.17019T>C (p.Asp5673=) rs1018272067
NM_001267550.2(TTN):c.17032C>A (p.Arg5678=) rs1199616569
NM_001267550.2(TTN):c.17043A>G (p.Arg5681=)
NM_001267550.2(TTN):c.17073G>A (p.Leu5691=) rs2154309618
NM_001267550.2(TTN):c.17079C>T (p.Ser5693=) rs372588069
NM_001267550.2(TTN):c.17088C>T (p.Ile5696=)
NM_001267550.2(TTN):c.17106A>T (p.Ala5702=)
NM_001267550.2(TTN):c.17115C>G (p.Gly5705=) rs370036981
NM_001267550.2(TTN):c.17127T>C (p.Cys5709=) rs2154309574
NM_001267550.2(TTN):c.17133G>A (p.Val5711=)
NM_001267550.2(TTN):c.17160C>T (p.Cys5720=) rs972381308
NM_001267550.2(TTN):c.17182+14C>A
NM_001267550.2(TTN):c.17182+17G>C
NM_001267550.2(TTN):c.17182+18T>G rs758899121
NM_001267550.2(TTN):c.17183-10C>A
NM_001267550.2(TTN):c.17183-15T>G rs2154309423
NM_001267550.2(TTN):c.17183-16T>A
NM_001267550.2(TTN):c.17183-5G>A rs1553924621
NM_001267550.2(TTN):c.17183-5G>T
NM_001267550.2(TTN):c.17187C>G (p.Pro5729=)
NM_001267550.2(TTN):c.17187C>T (p.Pro5729=)
NM_001267550.2(TTN):c.17190A>G (p.Pro5730=)
NM_001267550.2(TTN):c.17208C>T (p.Ile5736=) rs397517484
NM_001267550.2(TTN):c.17217C>T (p.Thr5739=) rs1553924564
NM_001267550.2(TTN):c.17226C>T (p.Leu5742=) rs2154309349
NM_001267550.2(TTN):c.17232A>G (p.Gly5744=)
NM_001267550.2(TTN):c.17235C>G (p.Gly5745=)
NM_001267550.2(TTN):c.17241T>C (p.Ala5747=)
NM_001267550.2(TTN):c.17259G>A (p.Leu5753=) rs1060503934
NM_001267550.2(TTN):c.17268C>T (p.Ser5756=)
NM_001267550.2(TTN):c.17274A>G (p.Pro5758=) rs1389532263
NM_001267550.2(TTN):c.17298C>T (p.Asp5766=)
NM_001267550.2(TTN):c.17331A>G (p.Arg5777=)
NM_001267550.2(TTN):c.17337C>G (p.Thr5779=) rs763117242
NM_001267550.2(TTN):c.17382C>G (p.Val5794=) rs946342761
NM_001267550.2(TTN):c.17385G>A (p.Lys5795=)
NM_001267550.2(TTN):c.17391T>C (p.Asp5797=) rs1446727042
NM_001267550.2(TTN):c.17409G>A (p.Gln5803=) rs914726368
NM_001267550.2(TTN):c.17427A>G (p.Gly5809=)
NM_001267550.2(TTN):c.17442T>G (p.Ser5814=) rs770532942
NM_001267550.2(TTN):c.17445A>C (p.Ala5815=)
NM_001267550.2(TTN):c.17461+12A>T
NM_001267550.2(TTN):c.17461+13C>T
NM_001267550.2(TTN):c.17461+8C>T
NM_001267550.2(TTN):c.17462-11G>C
NM_001267550.2(TTN):c.17462-17C>T
NM_001267550.2(TTN):c.17462-20T>C rs747021830
NM_001267550.2(TTN):c.17487T>C (p.Ala5829=) rs2154308954
NM_001267550.2(TTN):c.17499T>C (p.Asp5833=)
NM_001267550.2(TTN):c.17517A>C (p.Pro5839=) rs2154308917
NM_001267550.2(TTN):c.17523T>C (p.Thr5841=)
NM_001267550.2(TTN):c.17559A>G (p.Thr5853=) rs2154308870
NM_001267550.2(TTN):c.17559A>T (p.Thr5853=)
NM_001267550.2(TTN):c.17580C>T (p.Gly5860=)
NM_001267550.2(TTN):c.17592C>T (p.Thr5864=) rs1481239026
NM_001267550.2(TTN):c.17593C>T (p.Leu5865=) rs1255975692
NM_001267550.2(TTN):c.17595G>A (p.Leu5865=) rs2154308833
NM_001267550.2(TTN):c.17604A>G (p.Lys5868=) rs2154308822
NM_001267550.2(TTN):c.17610A>G (p.Lys5870=) rs2154308817
NM_001267550.2(TTN):c.17616T>C (p.Ser5872=)
NM_001267550.2(TTN):c.17619C>A (p.Val5873=)
NM_001267550.2(TTN):c.17622T>C (p.Thr5874=)
NM_001267550.2(TTN):c.17622T>G (p.Thr5874=) rs559877209
NM_001267550.2(TTN):c.17634A>G (p.Ser5878=)
NM_001267550.2(TTN):c.17638C>T (p.Leu5880=) rs1414423068

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