ClinVar Miner

List of variants in gene SIK1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) rs145582574 0.01018
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) rs200810453 0.00249
NM_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254 0.00188
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_173354.5(SIK1):c.881C>T (p.Ala294Val) rs141114345 0.00077
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) rs149713367 0.00076
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) rs373872652 0.00067
NM_173354.5(SIK1):c.453G>A (p.Lys151=) rs138750735 0.00035
NM_173354.5(SIK1):c.2226C>T (p.Pro742=) rs199872172 0.00022
NM_173354.5(SIK1):c.2320T>G (p.Cys774Gly) rs756377602 0.00022
NM_173354.5(SIK1):c.4G>A (p.Val2Ile) rs376640139 0.00019
NM_173354.5(SIK1):c.1198G>T (p.Val400Phe) rs746671842 0.00013
NM_173354.5(SIK1):c.30C>T (p.Asp10=) rs751254558 0.00011
NM_173354.5(SIK1):c.1623C>T (p.Pro541=) rs377361018 0.00010
NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu) rs181611369 0.00008
NM_173354.5(SIK1):c.1386G>A (p.Glu462=) rs772722600 0.00007
NM_173354.5(SIK1):c.1641C>T (p.Ser547=) rs767618062 0.00007
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu) rs567695572 0.00006
NM_173354.5(SIK1):c.1197C>T (p.Ser399=) rs139566516 0.00004
NM_173354.5(SIK1):c.1927G>A (p.Gly643Ser) rs201009426 0.00004
NM_173354.5(SIK1):c.1380G>A (p.Thr460=) rs373572087 0.00003
NM_173354.5(SIK1):c.2088G>A (p.Pro696=) rs376915289 0.00003
NM_173354.5(SIK1):c.2217C>T (p.Thr739=) rs112091900 0.00003
NM_173354.5(SIK1):c.408C>T (p.Ala136=) rs150770510 0.00003
NM_173354.5(SIK1):c.1068C>T (p.Pro356=) rs776984333 0.00002
NM_173354.5(SIK1):c.1235C>T (p.Ser412Leu) rs368079556 0.00002
NM_173354.5(SIK1):c.1782G>A (p.Thr594=) rs548640382 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_173354.5(SIK1):c.114C>T (p.Phe38=) rs1359524179 0.00001
NM_173354.5(SIK1):c.405G>A (p.Ser135=) rs756318531 0.00001
NM_173354.5(SIK1):c.938A>G (p.Gln313Arg) rs1352926525 0.00001
NC_000021.9:g.43402567del
NC_000021.9:g.43403420G>A
NC_000021.9:g.43403691A>C
NM_173354.5(SIK1):c.1179G>A (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro) rs367547841
NM_173354.5(SIK1):c.1710G>A (p.Glu570=)
NM_173354.5(SIK1):c.1921G>T (p.Ala641Ser) rs368632078
NM_173354.5(SIK1):c.2226C>G (p.Pro742=) rs199872172
NM_173354.5(SIK1):c.87C>T (p.Ile29=)

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.