ClinVar Miner

List of variants in gene SIK1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_173354.5(SIK1):c.1455C>T (p.Thr485=) rs28510483 0.05232
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) rs35596465 0.05170
NM_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_173354.5(SIK1):c.1554G>T (p.Ala518=) rs34487963 0.01593
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) rs145582574 0.01018
NM_173354.5(SIK1):c.693G>A (p.Thr231=) rs113685366 0.01016
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) rs200810453 0.00249
NM_173354.5(SIK1):c.2204G>A (p.Gly735Asp) rs201955244 0.00198
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.2160G>T (p.Pro720=) rs371001336 0.00125
NM_173354.5(SIK1):c.1100C>T (p.Ser367Leu) rs146018004 0.00118
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.1404G>A (p.Thr468=) rs147101451 0.00035
NM_173354.5(SIK1):c.453G>A (p.Lys151=) rs138750735 0.00035
NM_173354.5(SIK1):c.2175G>A (p.Ala725=) rs372469113 0.00029
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser) rs35519605 0.00026
NM_173354.5(SIK1):c.2148C>T (p.Thr716=) rs776741814 0.00026
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.1463-3C>T rs372615326 0.00022
NM_173354.5(SIK1):c.2226C>T (p.Pro742=) rs199872172 0.00022
NM_173354.5(SIK1):c.1086G>T (p.Pro362=) rs139979941 0.00019
NM_173354.5(SIK1):c.1246-5C>T rs371389145 0.00019
NM_173354.5(SIK1):c.4G>A (p.Val2Ile) rs376640139 0.00019
NM_173354.5(SIK1):c.1926C>T (p.Ala642=) rs761311570 0.00018
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.1198G>T (p.Val400Phe) rs746671842 0.00013
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) rs528905001 0.00011
NM_173354.5(SIK1):c.1488G>A (p.Thr496=) rs753580147 0.00011
NM_173354.5(SIK1):c.1143C>T (p.Thr381=) rs201261435 0.00010
NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr) rs752544370 0.00010
NM_173354.5(SIK1):c.2142G>A (p.Leu714=) rs759724871 0.00010
NM_173354.5(SIK1):c.2209G>A (p.Gly737Ser) rs544711047 0.00007
NM_173354.5(SIK1):c.1137T>C (p.Leu379=) rs769697033 0.00006
NM_173354.5(SIK1):c.1356G>A (p.Pro452=) rs762697666 0.00006
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) rs753288564 0.00006
NM_173354.5(SIK1):c.2121G>A (p.Pro707=) rs374313941 0.00006
NM_173354.5(SIK1):c.306C>T (p.Val102=) rs201331473 0.00006
NM_173354.5(SIK1):c.924G>A (p.Ala308=) rs199738681 0.00006
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp) rs748371566 0.00005
NM_173354.5(SIK1):c.2201T>C (p.Ile734Thr) rs758936540 0.00005
NM_173354.5(SIK1):c.1172C>T (p.Pro391Leu) rs757476600 0.00004
NM_173354.5(SIK1):c.1856G>A (p.Arg619Gln) rs372399294 0.00004
NM_173354.5(SIK1):c.456C>T (p.Thr152=) rs776186797 0.00004
NM_173354.5(SIK1):c.1059C>T (p.Cys353=) rs763345874 0.00003
NM_173354.5(SIK1):c.1064G>A (p.Arg355His) rs759838082 0.00003
NM_173354.5(SIK1):c.1094G>A (p.Arg365Gln) rs780535115 0.00003
NM_173354.5(SIK1):c.1299C>T (p.Pro433=) rs749291191 0.00003
NM_173354.5(SIK1):c.1403C>T (p.Thr468Met) rs1012778505 0.00003
NM_173354.5(SIK1):c.1739C>T (p.Thr580Ile) rs751643088 0.00003
NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr) rs777106028 0.00003
NM_173354.5(SIK1):c.2033A>C (p.Gln678Pro) rs763160252 0.00003
NM_173354.5(SIK1):c.2112G>A (p.Ser704=) rs773124142 0.00003
NM_173354.5(SIK1):c.2154G>A (p.Ala718=) rs529008487 0.00003
NM_173354.5(SIK1):c.2217C>T (p.Thr739=) rs112091900 0.00003
NM_173354.5(SIK1):c.2225C>T (p.Pro742Leu) rs750558686 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.1046G>A (p.Arg349Gln) rs753524703 0.00002
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.2242C>T (p.Arg748Cys) rs768404256 0.00002
NM_173354.5(SIK1):c.690G>A (p.Pro230=) rs769785714 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.1395C>T (p.Pro465=) rs1260406479 0.00001
NM_173354.5(SIK1):c.1505G>A (p.Gly502Glu) rs763399015 0.00001
NM_173354.5(SIK1):c.1518C>T (p.Asp506=) rs151161967 0.00001
NM_173354.5(SIK1):c.2104C>A (p.Leu702Ile) rs1204878132 0.00001
NM_173354.5(SIK1):c.2139C>T (p.Leu713=) rs1250236920 0.00001
NM_173354.5(SIK1):c.2202T>C (p.Ile734=) rs368699653 0.00001
NM_173354.5(SIK1):c.301A>G (p.Ile101Val) rs1162511475 0.00001
NM_173354.5(SIK1):c.345G>A (p.Leu115=) rs775279592 0.00001
NM_173354.5(SIK1):c.404C>T (p.Ser135Leu) rs780569607 0.00001
NM_173354.5(SIK1):c.691A>G (p.Thr231Ala) rs745825829 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.1101G>A (p.Ser367=) rs751045541
NM_173354.5(SIK1):c.1154G>A (p.Arg385Gln) rs545863305
NM_173354.5(SIK1):c.1179G>A (p.Pro393=) rs142768400
NM_173354.5(SIK1):c.11T>C (p.Met4Thr) rs1569017796
NM_173354.5(SIK1):c.1209C>T (p.Ala403=)
NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln) rs181611369
NM_173354.5(SIK1):c.1300G>A (p.Val434Met) rs111780079
NM_173354.5(SIK1):c.1300G>C (p.Val434Leu) rs111780079
NM_173354.5(SIK1):c.1425C>T (p.Ala475=)
NM_173354.5(SIK1):c.1450C>T (p.Leu484Phe)
NM_173354.5(SIK1):c.1463-5C>A rs375664122
NM_173354.5(SIK1):c.1463-5C>T rs375664122
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
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.1552G>C (p.Ala518Pro) rs367547841
NM_173354.5(SIK1):c.1553C>G (p.Ala518Gly) rs142171557
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279
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.1871G>T (p.Gly624Val)
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>G (p.Pro635Arg) rs779904079
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.2127G>A (p.Leu709=) rs1173555669
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.2166C>T (p.Ala722=) rs994009828
NM_173354.5(SIK1):c.2182C>T (p.Leu728=) rs926567754
NM_173354.5(SIK1):c.2333C>T (p.Thr778Met)
NM_173354.5(SIK1):c.263A>G (p.Lys88Arg)
NM_173354.5(SIK1):c.274-3del rs550878772
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.633C>T (p.Gly211=)
NM_173354.5(SIK1):c.673G>A (p.Asp225Asn)
NM_173354.5(SIK1):c.718C>T (p.Arg240Cys)
NM_173354.5(SIK1):c.835C>G (p.Arg279Gly) rs778203309
NM_173354.5(SIK1):c.836G>A (p.Arg279Gln)
NM_173354.5(SIK1):c.849C>T (p.Cys283=) rs528484611
NM_173354.5(SIK1):c.871G>A (p.Ala291Thr) rs201889040
NM_173354.5(SIK1):c.87C>T (p.Ile29=)

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