ClinVar Miner

List of variants in gene SKI reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009 0.00035
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617 0.00009
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212 0.00009
NM_003036.4(SKI):c.1923G>A (p.Leu641=) rs199666240 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.450C>T (p.Cys150=) rs538703800 0.00005
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078 0.00003
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003036.4(SKI):c.1599C>T (p.Asp533=) rs758323266 0.00002
NM_003036.4(SKI):c.930A>G (p.Lys310=) rs751629802 0.00002
NM_003036.4(SKI):c.1998+9G>A rs533071160 0.00001
NM_003036.4(SKI):c.405G>T (p.Ser135=) rs769774481 0.00001
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617 0.00001
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586 0.00001
NM_003036.4(SKI):c.1131T>C (p.Ser377=)
NM_003036.4(SKI):c.1665C>T (p.Thr555=)
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.2115G>T (p.Leu705=)
NM_003036.4(SKI):c.2142C>T (p.Arg714=) rs1569868248

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.