ClinVar Miner

List of variants in gene TTN studied for Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile) rs559712998 0.00006
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn) rs377614000 0.00006
NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp) rs908686601 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00004
NM_001267550.2(TTN):c.29253C>T (p.Gly9751=) rs771825568 0.00003
NM_001267550.2(TTN):c.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp) rs767768313 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro) rs556155561 0.00002
NM_001267550.2(TTN):c.35470+4T>C rs1389073196 0.00002
NM_001267550.2(TTN):c.58342A>G (p.Lys19448Glu) rs900082928 0.00002
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys) rs765435004 0.00001
NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn) rs779206858 0.00001
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr) rs758073208 0.00001
NM_001267550.2(TTN):c.12026A>G (p.Tyr4009Cys) rs753367343 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) rs764850788 0.00001
NM_001267550.2(TTN):c.42714T>A (p.His14238Gln) rs1438979717 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.69420del (p.Gly23141fs) rs1330960948 0.00001
NM_001267550.2(TTN):c.725A>G (p.Asp242Gly) rs773021696 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.98917A>G (p.Ile32973Val) rs773080115 0.00001
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
NM_001267550.2(TTN):c.105098G>A (p.Gly35033Glu)
NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn)
NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)
NM_001267550.2(TTN):c.1863A>C (p.Lys621Asn)
NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile)
NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile)
NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala)
NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr)
NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala)
NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile)
NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys)
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) rs149883066
NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu)
NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly)
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr)
NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg)
NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del)
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del) rs747793660
NM_001267550.2(TTN):c.42439C>T (p.Pro14147Ser) rs1559970037
NM_001267550.2(TTN):c.43156G>A (p.Gly14386Arg)
NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys)
NM_001267550.2(TTN):c.48160+1G>A rs779498825
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.52405+4A>G
NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr)
NM_001267550.2(TTN):c.628A>G (p.Thr210Ala)
NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro)
NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter) rs2047743679
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser)
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser)
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val)
NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala)
NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser)
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.88379T>C (p.Leu29460Pro)
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile)
NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys)
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys)
NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala)
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)

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