ClinVar Miner

List of variants in gene SKI studied for not specified

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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NM_003036.4(SKI):c.*17C>T rs746845280
NM_003036.4(SKI):c.-19G>A rs1003998999
NM_003036.4(SKI):c.-26_-21dup rs1219383549
NM_003036.4(SKI):c.-28G>T rs1057524766
NM_003036.4(SKI):c.-42G>A rs1057524624
NM_003036.4(SKI):c.-49G>T rs866291734
NM_003036.4(SKI):c.1005A>G (p.Lys335=) rs1057524639
NM_003036.4(SKI):c.1032C>T (p.Pro344=) rs766656095
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009
NM_003036.4(SKI):c.1041C>T (p.Ser347=) rs140745811
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778
NM_003036.4(SKI):c.1068G>A (p.Leu356=) rs1057523408
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808
NM_003036.4(SKI):c.1096-10T>G rs752587204
NM_003036.4(SKI):c.1096-6C>T rs201304370
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1164G>A (p.Ala388=) rs780171614
NM_003036.4(SKI):c.1188C>T (p.His396=) rs998931386
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.1197C>A (p.Ala399=) rs1057522450
NM_003036.4(SKI):c.1211+10C>T rs200242660
NM_003036.4(SKI):c.1211+11G>A rs115186522
NM_003036.4(SKI):c.1211+17C>T rs753878221
NM_003036.4(SKI):c.1211+19C>T rs182600375
NM_003036.4(SKI):c.1212-8C>T rs370921440
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala) rs1057518494
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031
NM_003036.4(SKI):c.1474+4C>A rs780930093
NM_003036.4(SKI):c.147G>A (p.Lys49=) rs1043627749
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969
NM_003036.4(SKI):c.1506G>A (p.Pro502=) rs975738197
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.4(SKI):c.1608T>C (p.Ser536=) rs1553201055
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908
NM_003036.4(SKI):c.1767+11C>T rs202132957
NM_003036.4(SKI):c.1767+9G>T rs181520853
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811
NM_003036.4(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1932G>A (p.Ala644=) rs1057521646
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078
NM_003036.4(SKI):c.1938G>A (p.Gln646=) rs757701064
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.4(SKI):c.1998+9G>A rs533071160
NM_003036.4(SKI):c.1999-16C>T rs1057523169
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.4(SKI):c.2064G>C (p.Leu688=) rs1057522396
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly) rs863223721
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821
NM_003036.4(SKI):c.342G>T (p.Val114=) rs1057523880
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.4(SKI):c.436_437insCTC (p.Leu146_His147insPro) rs1553189924
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685
NM_003036.4(SKI):c.567G>C (p.Leu189=) rs752411031
NM_003036.4(SKI):c.570C>T (p.Leu190=) rs1253539827
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843
NM_003036.4(SKI):c.687G>A (p.Lys229=) rs750391739
NM_003036.4(SKI):c.702C>G (p.Pro234=) rs1057523205
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600
NM_003036.4(SKI):c.75C>T (p.His25=) rs1486448334
NM_003036.4(SKI):c.768G>A (p.Pro256=) rs1057521232
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431
NM_003036.4(SKI):c.893C>G (p.Ala298Gly) rs1233215789
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.970-10T>C rs750601690
NM_003036.4(SKI):c.970-7A>G rs199634070
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352

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