ClinVar Miner

List of variants reported for Spinocerebellar ataxia type 19/22; Brugada syndrome 9 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) rs148428571 0.00038
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) rs774713377 0.00006
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) rs199637120 0.00003
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) rs760907112 0.00002
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) rs773858454 0.00001
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) rs372362132 0.00001
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) rs766584545 0.00001
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) rs369361457
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys) rs976664434
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) rs1447493103
NM_001378969.1(KCND3):c.63G>C (p.Pro21=) rs923682288

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.