ClinVar Miner

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

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Gene type:
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Total variants: 74
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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.859_861del (p.Pro287del) rs374476526 0.00195
NM_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254 0.00188
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) rs112011493 0.00172
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
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.966G>A (p.Thr322=) rs148266853 0.00051
NM_173354.5(SIK1):c.453G>A (p.Lys151=) rs138750735 0.00035
NM_173354.5(SIK1):c.875T>A (p.Phe292Tyr) rs150241738 0.00026
NM_173354.5(SIK1):c.546G>T (p.Thr182=) rs146068550 0.00025
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.1875G>T (p.Leu625=) rs376554812 0.00010
NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr) rs752544370 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.1915G>A (p.Gly639Ser) rs780476959 0.00006
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu) rs567695572 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp) rs748371566 0.00005
NM_173354.5(SIK1):c.880G>A (p.Ala294Thr) rs776214001 0.00005
NM_173354.5(SIK1):c.1197C>T (p.Ser399=) rs139566516 0.00004
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) rs765573579 0.00004
NM_173354.5(SIK1):c.1927G>A (p.Gly643Ser) rs201009426 0.00004
NM_173354.5(SIK1):c.1064G>A (p.Arg355His) rs759838082 0.00003
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.2112G>A (p.Ser704=) rs773124142 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.1295G>A (p.Arg432Gln) rs778947480 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.43403465G>T
NC_000021.9:g.43403629G>A
NC_000021.9:g.43403668C>T
NC_000021.9:g.43403691A>C
NM_173354.5(SIK1):c.1179G>A (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.1300G>C (p.Val434Leu) rs111780079
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly) rs2081044918
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_173354.5(SIK1):c.1552G>C (p.Ala518Pro) rs367547841
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.5(SIK1):c.1635G>A (p.Ser545=) rs113076434
NM_173354.5(SIK1):c.1710G>A (p.Glu570=)
NM_173354.5(SIK1):c.1783C>T (p.Arg595Trp) rs372646769
NM_173354.5(SIK1):c.1892C>G (p.Pro631Arg)
NM_173354.5(SIK1):c.1921G>T (p.Ala641Ser) rs368632078
NM_173354.5(SIK1):c.2117T>A (p.Leu706His)
NM_173354.5(SIK1):c.2226C>G (p.Pro742=) rs199872172
NM_173354.5(SIK1):c.332T>C (p.Met111Thr) rs2146474475
NM_173354.5(SIK1):c.428A>G (p.His143Arg)
NM_173354.5(SIK1):c.572C>T (p.Ala191Val)
NM_173354.5(SIK1):c.580G>C (p.Val194Leu)
NM_173354.5(SIK1):c.753_754del (p.Cys251_Glu252delinsTer) rs2081052107
NM_173354.5(SIK1):c.87C>T (p.Ile29=)

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