ClinVar Miner

List of variants in gene combination LOC126806423, TTN reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.67537T>C (p.Leu22513=) rs727504507 0.00003
NM_001267550.2(TTN):c.68272G>A (p.Asp22758Asn) rs397517675 0.00003
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg) rs397517669 0.00002
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=) rs397517671 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=) rs397517674 0.00001
NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe) rs397517676 0.00001
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn) rs397517670
NM_001267550.2(TTN):c.67683G>C (p.Leu22561Phe) rs876658076
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) rs727505352
NM_001267550.2(TTN):c.68251A>C (p.Asn22751His) rs727504970

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.