ClinVar Miner

List of variants in gene combination LOC129935183, TTN reported as uncertain significance for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala) rs780629996 0.00019
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly) rs370476812 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu) rs560557634 0.00003
NM_001267550.2(TTN):c.105916G>A (p.Val35306Met) rs1434315858 0.00002
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met) rs397517797 0.00001
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro) rs769195414 0.00001
NM_001267550.2(TTN):c.105667G>A (p.Val35223Ile) rs1688851195 0.00001
NM_001267550.2(TTN):c.105673G>A (p.Glu35225Lys) rs1688847847 0.00001
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp) rs752729073 0.00001
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys) rs1010179080 0.00001
NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp) rs377219772 0.00001
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His) rs758094020 0.00001
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His) rs1451951231 0.00001
NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr) rs764713884 0.00001
NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu) rs1183014419 0.00001
NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr) rs879080442 0.00001
NM_001267550.2(TTN):c.105581C>T (p.Ser35194Phe)
NM_001267550.2(TTN):c.105584A>C (p.Asp35195Ala)
NM_001267550.2(TTN):c.105592A>G (p.Asn35198Asp)
NM_001267550.2(TTN):c.105600C>G (p.Ser35200Arg) rs1553485050
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
NM_001267550.2(TTN):c.105613_105633del (p.Asn35205_Glu35211del)
NM_001267550.2(TTN):c.105616A>G (p.Ser35206Gly) rs2154133150
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
NM_001267550.2(TTN):c.105634G>A (p.Ala35212Thr)
NM_001267550.2(TTN):c.105635C>T (p.Ala35212Val)
NM_001267550.2(TTN):c.105637G>A (p.Glu35213Lys)
NM_001267550.2(TTN):c.105644C>T (p.Thr35215Ile)
NM_001267550.2(TTN):c.105652A>G (p.Ile35218Val)
NM_001267550.2(TTN):c.105661G>A (p.Ala35221Thr)
NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp) rs1558992011
NM_001267550.2(TTN):c.105664A>G (p.Arg35222Gly) rs2154133116
NM_001267550.2(TTN):c.105665G>C (p.Arg35222Thr)
NM_001267550.2(TTN):c.105670A>T (p.Thr35224Ser) rs1688850382
NM_001267550.2(TTN):c.105689C>T (p.Ser35230Leu)
NM_001267550.2(TTN):c.105691C>T (p.Pro35231Ser)
NM_001267550.2(TTN):c.105698G>C (p.Arg35233Thr)
NM_001267550.2(TTN):c.105706T>C (p.Ser35236Pro)
NM_001267550.2(TTN):c.105715C>T (p.Pro35239Ser)
NM_001267550.2(TTN):c.105721G>A (p.Val35241Met)
NM_001267550.2(TTN):c.105731C>T (p.Pro35244Leu) rs2154133075
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp) rs1444816567
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val) rs370476812
NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)
NM_001267550.2(TTN):c.105780C>A (p.His35260Gln) rs373486593
NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu) rs770730954
NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)
NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) rs1553484561
NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile) rs2857271
NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)
NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)
NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe) rs1688767942
NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly) rs1553484434
NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser) rs764713884
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly) rs569210689
NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp) rs886055219
NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)
NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)
NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)
NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)
NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)
NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn) rs1553484229
NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr) rs1553484229
NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser) rs1688720188
NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser) rs1688710616
NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn) rs1391706140
NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser) rs1391706140
NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)

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