ClinVar Miner

List of variants in gene SIK1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.2048C>T (p.Pro683Leu) rs776595772 0.00018
NM_173354.5(SIK1):c.1619C>T (p.Ser540Leu) rs200481902 0.00017
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) rs753288564 0.00006
NM_173354.5(SIK1):c.2033A>C (p.Gln678Pro) rs763160252 0.00003
NM_173354.5(SIK1):c.1046G>A (p.Arg349Gln) rs753524703 0.00002
NM_173354.5(SIK1):c.2034G>T (p.Gln678His) rs775749558 0.00002
NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys) rs768404256 0.00002
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn) rs769181075 0.00002
NM_173354.5(SIK1):c.1105C>T (p.Leu369Phe) rs1396148473 0.00001
NM_173354.5(SIK1):c.1355C>T (p.Pro452Leu) rs1451348781 0.00001
NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu) rs763399015 0.00001
NM_173354.5(SIK1):c.2104C>A (p.Leu702Ile) rs1204878132 0.00001
NM_173354.5(SIK1):c.301A>G (p.Ile101Val) rs1162511475 0.00001
NM_173354.5(SIK1):c.404C>T (p.Ser135Leu) rs780569607 0.00001
NM_173354.5(SIK1):c.1063C>T (p.Arg355Cys) rs765513472
NM_173354.5(SIK1):c.1078A>G (p.Arg360Gly)
NM_173354.5(SIK1):c.1154G>A (p.Arg385Gln) rs545863305
NM_173354.5(SIK1):c.11T>C (p.Met4Thr) rs1569017796
NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln) rs181611369
NM_173354.5(SIK1):c.1450C>T (p.Leu484Phe)
NM_173354.5(SIK1):c.1463-5C>A rs375664122
NM_173354.5(SIK1):c.1479del (p.Ser494fs)
NM_173354.5(SIK1):c.1525C>A (p.Leu509Met)
NM_173354.5(SIK1):c.1547G>A (p.Ser516Asn)
NM_173354.5(SIK1):c.1553C>G (p.Ala518Gly) rs142171557
NM_173354.5(SIK1):c.1670G>A (p.Gly557Asp) rs372101645
NM_173354.5(SIK1):c.1777A>T (p.Thr593Ser) rs2146469026
NM_173354.5(SIK1):c.1781C>T (p.Thr594Met) rs754963793
NM_173354.5(SIK1):c.1820G>A (p.Gly607Glu)
NM_173354.5(SIK1):c.1828C>T (p.Arg610Cys) rs773946657
NM_173354.5(SIK1):c.1855C>T (p.Arg619Trp)
NM_173354.5(SIK1):c.189A>C (p.Leu63Phe) rs2146476083
NM_173354.5(SIK1):c.1902C>G (p.Ser634Arg)
NM_173354.5(SIK1):c.1904C>T (p.Pro635Leu) rs779904079
NM_173354.5(SIK1):c.2011C>T (p.Pro671Ser) rs1403535677
NM_173354.5(SIK1):c.2086C>T (p.Pro696Ser) rs778637849
NM_173354.5(SIK1):c.2333C>T (p.Thr778Met)
NM_173354.5(SIK1):c.263A>G (p.Lys88Arg)
NM_173354.5(SIK1):c.278T>C (p.Met93Thr)
NM_173354.5(SIK1):c.331A>G (p.Met111Val) rs374251012
NM_173354.5(SIK1):c.386A>C (p.Lys129Thr) rs370702184
NM_173354.5(SIK1):c.536C>G (p.Pro179Arg) rs2146473786
NM_173354.5(SIK1):c.563C>G (p.Pro188Arg) rs754959423
NM_173354.5(SIK1):c.673G>A (p.Asp225Asn)
NM_173354.5(SIK1):c.718C>T (p.Arg240Cys)

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