ClinVar Miner

List of variants in gene SKI reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.970-166A>G rs1496555 0.87546
NM_003036.4(SKI):c.1475-60C>T rs2843159 0.27552
NM_003036.4(SKI):c.1211+180T>C rs4648631 0.21890
NM_003036.4(SKI):c.969+316C>T rs3765930 0.20949
NM_003036.4(SKI):c.1211+64C>T rs2256178 0.20663
NM_003036.4(SKI):c.1475-70G>A rs2645073 0.19245
NM_003036.4(SKI):c.1095+90G>A rs2279702 0.13014
NM_003036.4(SKI):c.*33A>T rs2230008 0.11700
NM_003036.4(SKI):c.1475-76G>A rs11577387 0.10612
NM_003036.4(SKI):c.1768-307T>G rs75635289 0.03451
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003036.4(SKI):c.1767+12G>A rs772577806 0.00004
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003036.4(SKI):c.1768-211A>G rs11580302
NM_003036.4(SKI):c.1890C>A (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1999-153C>G rs57825631
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.969+10971T>C
NM_003036.4(SKI):c.969+18173C>T
NM_003036.4(SKI):c.969+18344C>T

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.