ClinVar Miner

List of variants in gene SKI reported as likely benign for Shprintzen-Goldberg syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)
NM_003036.4(SKI):c.1059C>T (p.Ser353=)
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778
NM_003036.4(SKI):c.1152C>G (p.Pro384=)
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.1211+10C>T rs200242660
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737
NM_003036.4(SKI):c.129G>A (p.Ala43=) rs1313492083
NM_003036.4(SKI):c.1302G>A (p.Pro434=) rs111459205
NM_003036.4(SKI):c.1317C>T (p.Val439=)
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.4(SKI):c.1596C>T (p.Ala532=)
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.4(SKI):c.1710C>T (p.Arg570=)
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.4(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.4(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1914G>A (p.Lys638=)
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078
NM_003036.4(SKI):c.1999-9C>G rs369496789
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.4(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.4(SKI):c.405G>T (p.Ser135=)
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.4(SKI):c.840C>T (p.Asn280=) rs1423154745
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.970-5C>T
NM_003036.4(SKI):c.975C>T (p.Ser325=) rs753145672

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.