ClinVar Miner

List of variants in gene combination LOC126806429, TTN reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile) rs140143513 0.00004
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.19769C>T (p.Thr6590Ile) rs760473000 0.00002
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr) rs779405672 0.00001
NM_001267550.2(TTN):c.20074G>A (p.Ala6692Thr) rs757056558 0.00001
NM_001267550.2(TTN):c.19843G>A (p.Val6615Ile) rs2154305992
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu) rs1362220931
NM_001267550.2(TTN):c.19910A>G (p.Asp6637Gly)
NM_001267550.2(TTN):c.19994-8C>G
NM_001267550.2(TTN):c.20027C>A (p.Ser6676Tyr) rs746565627
NM_001267550.2(TTN):c.20138A>C (p.Lys6713Thr) rs1410340266
NM_001267550.2(TTN):c.20170G>T (p.Val6724Phe) rs140143513
NM_001267550.2(TTN):c.20182A>G (p.Asn6728Asp)
NM_001267550.2(TTN):c.20185A>C (p.Asn6729His) rs794729619
NM_001267550.2(TTN):c.20228A>G (p.Gln6743Arg) rs794729620
NM_001267550.2(TTN):c.20260A>G (p.Lys6754Glu) rs397517494

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.