ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00022
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00017
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00016
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 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.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile) rs559712998 0.00007
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.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00004
NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp) rs760089168 0.00003
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.628A>G (p.Thr210Ala) rs777677253 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00003
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 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.49310T>A (p.Val16437Asp) rs767768313 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.1863A>C (p.Lys621Asn) rs2093407447 0.00001
NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala) rs2077087035 0.00001
NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu) rs2067071366 0.00001
NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly) rs756069642 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.43156G>A (p.Gly14386Arg) rs762501686 0.00001
NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys) rs1473069344 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.58342A>G (p.Lys19448Glu) rs900082928 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 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.70013G>A (p.Arg23338Gln) rs78916558 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.88379T>C (p.Leu29460Pro) rs1273946474 0.00001
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile) rs749433506 0.00001
NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys) rs1698818186 0.00001
NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala) rs371097838 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) rs2468523896
NM_001267550.2(TTN):c.105098G>A (p.Gly35033Glu)
NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn) rs2468313586
NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr) rs1349501051
NM_001267550.2(TTN):c.18325A>T (p.Lys6109Ter)
NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile) rs2529843663
NM_001267550.2(TTN):c.19993+6C>T rs371014054
NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile) rs2529482583
NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala) rs1560668952
NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr) rs1486145907
NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile) rs1347223686
NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys) rs1223983021
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) rs149883066
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr) rs1053167018
NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg) rs907757552
NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del) rs1560017819
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.48160+1G>A rs779498825
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.52405+4A>G rs2470347435
NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr) rs2054582946
NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro) rs765859586
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) rs2468650185
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser) rs878888593
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val) rs2468497313
NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala) rs1469008305
NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser) rs2468163865
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.89136C>A (p.Asn29712Lys) rs376289479
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs) rs2468750564
NM_133378.4(TTN):c.[38532C>A];[52301A>G]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.