ClinVar Miner

List of variants in gene FASTKD2 studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_001136193.2(FASTKD2):c.*451C>T rs192433004
NM_001136193.2(FASTKD2):c.*557A>G rs7559712
NM_001136193.2(FASTKD2):c.*58G>A rs183337182
NM_001136193.2(FASTKD2):c.*627T>C rs1048783
NM_001136193.2(FASTKD2):c.*672T>A rs61672260
NM_001136193.2(FASTKD2):c.*87A>G rs115098389
NM_001136193.2(FASTKD2):c.-130G>A rs543042440
NM_001136193.2(FASTKD2):c.-15A>G rs886055505
NM_001136193.2(FASTKD2):c.-162C>T rs16838842
NM_001136193.2(FASTKD2):c.-184C>T rs3762567
NM_001136193.2(FASTKD2):c.-30T>C rs145438423
NM_001136193.2(FASTKD2):c.1021del (p.Ser341fs) rs1559360466
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001136193.2(FASTKD2):c.1295G>A (p.Arg432Gln) rs372022584
NM_001136193.2(FASTKD2):c.1428-13C>G rs761492608
NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter)
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu) rs150016888
NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser) rs142211558
NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705
NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=) rs374830420
NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568
NM_001136193.2(FASTKD2):c.527C>T (p.Ala176Val) rs367909050
NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His) rs150994958
NM_001136194.1(FASTKD2):c.*159C>A rs549535843
NM_001136194.1(FASTKD2):c.*399T>A rs886055507
NM_001136194.1(FASTKD2):c.*585G>C rs886055508
NM_001136194.1(FASTKD2):c.*624C>G rs886055509
NM_001136194.1(FASTKD2):c.-196G>A rs866957815
NM_001136194.1(FASTKD2):c.-231T>G rs886055504
NM_001136194.1(FASTKD2):c.-235G>C rs886055503
NM_001136194.1(FASTKD2):c.-37C>T rs765204520
NM_001136194.1(FASTKD2):c.1992A>C (p.Ala664=) rs149018757
NM_001136194.1(FASTKD2):c.2074A>G (p.Lys692Glu) rs771134176
NM_001136194.1(FASTKD2):c.832G>A (p.Glu278Lys) rs886055506
NM_001136194.1(FASTKD2):c.991-13G>C rs13421046

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.