ClinVar Miner

List of variants in gene SIK1 reported as benign for developmental and epileptic encephalopathy

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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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.625-39A>G rs2006112 0.32889
NM_173354.5(SIK1):c.749-45C>G rs657978 0.32441
NM_173354.5(SIK1):c.625-23T>C rs2006191 0.31560
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_173354.5(SIK1):c.1246-36T>C rs2838302 0.09992
NM_173354.5(SIK1):c.274-28G>A rs59151119 0.09888
NM_173354.5(SIK1):c.337+35C>G rs57684950 0.09708
NM_173354.5(SIK1):c.156+15T>C rs56796001 0.09264
NM_173354.5(SIK1):c.749-49G>A rs117253106 0.06248
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.1463-7C>T rs142866662 0.00575
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.1470C>T (p.Val490=) rs144693254 0.00188
NM_173354.5(SIK1):c.1463-18G>A rs370691454 0.00179
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_173354.5(SIK1):c.2160G>T (p.Pro720=) rs371001336 0.00125
NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr) rs200534160 0.00121
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
NM_173354.5(SIK1):c.939G>T (p.Gln313His) rs200357670 0.00090
NM_173354.5(SIK1):c.624+15C>T rs139467241 0.00077
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) rs149713367 0.00076
NM_173354.5(SIK1):c.1744+10G>A rs376512810 0.00071
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) rs373872652 0.00067
NM_173354.5(SIK1):c.500-21_500-18del rs375258010 0.00060
NM_173354.5(SIK1):c.966G>A (p.Thr322=) rs148266853 0.00051
NM_173354.5(SIK1):c.1560C>T (p.Leu520=) rs146485356 0.00045
NM_173354.5(SIK1):c.1462+11C>T rs373251983 0.00041
NM_173354.5(SIK1):c.453G>A (p.Lys151=) rs138750735 0.00035
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser) rs35519605 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.4G>A (p.Val2Ile) rs376640139 0.00019
NM_173354.5(SIK1):c.1278C>T (p.Ser426=) rs539889673 0.00016
NM_173354.5(SIK1):c.243G>C (p.Leu81=) rs549478743 0.00012
NM_173354.5(SIK1):c.1488G>A (p.Thr496=) rs753580147 0.00011
NM_173354.5(SIK1):c.30C>T (p.Asp10=) rs751254558 0.00011
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.2005G>A (p.Ala669Thr) rs753288564 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.924G>A (p.Ala308=) rs199738681 0.00006
NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr) rs753285222 0.00003
NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala) rs377535420 0.00003
NM_173354.5(SIK1):c.1379C>T (p.Thr460Met) rs761262141 0.00003
NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser) rs751934560 0.00003
NM_173354.5(SIK1):c.2112G>A (p.Ser704=) rs773124142 0.00003
NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr) rs760602207 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.273+8G>T rs370279333 0.00003
NM_173354.5(SIK1):c.1782G>A (p.Thr594=) rs548640382 0.00002
NM_173354.5(SIK1):c.2045C>T (p.Ala682Val) rs1362078144 0.00002
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn) rs769181075 0.00002
NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys) rs1374242563 0.00001
NC_000021.8:g.(?_44836602)_(44837674_?)dup
NC_000021.8:g.(?_44836622)_(44837654_?)dup
NC_000021.8:g.(?_44836622)_(44837664_?)dup
NM_173354.5(SIK1):c.1463-5del rs1252502732
NM_173354.5(SIK1):c.1463-5dup
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.5(SIK1):c.156+11dup
NM_173354.5(SIK1):c.156+18G>C rs201427751
NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser) rs761551726
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg) rs1243997625
NM_173354.5(SIK1):c.1976+15del rs2146468542
NM_173354.5(SIK1):c.2108C>T (p.Thr703Met) rs1308366748
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg) rs1227514074
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.748+17C>T rs75559179

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