ClinVar Miner

List of variants in gene SKI reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP
NM_003036.3(SKI):c.*17C>T rs746845280
NM_003036.3(SKI):c.-19G>A rs1003998999
NM_003036.3(SKI):c.-26_-21dup rs1219383549
NM_003036.3(SKI):c.-28G>T rs1057524766
NM_003036.3(SKI):c.-42G>A rs1057524624
NM_003036.3(SKI):c.-49G>T rs866291734
NM_003036.3(SKI):c.1000C>T (p.Pro334Ser) rs775433131
NM_003036.3(SKI):c.1005A>G (p.Lys335=) rs1057524639
NM_003036.3(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.3(SKI):c.1032C>T (p.Pro344=) rs766656095
NM_003036.3(SKI):c.1033G>A (p.Ala345Thr) rs150934009
NM_003036.3(SKI):c.1039delT (p.Ser347Profs) rs1553200666
NM_003036.3(SKI):c.1041C>T (p.Ser347=) rs140745811
NM_003036.3(SKI):c.105G>A (p.Pro35=) rs778180778
NM_003036.3(SKI):c.1068G>A (p.Leu356=) rs1057523408
NM_003036.3(SKI):c.1070G>A (p.Arg357Gln) rs200874294
NM_003036.3(SKI):c.1096-10T>G rs752587204
NM_003036.3(SKI):c.1096-6C>T rs201304370
NM_003036.3(SKI):c.1098C>G (p.Ser366Arg) rs1553200726
NM_003036.3(SKI):c.1109T>C (p.Val370Ala) rs138088528
NM_003036.3(SKI):c.1139G>A (p.Arg380Gln) rs760033804
NM_003036.3(SKI):c.1162G>A (p.Ala388Thr) rs376736872
NM_003036.3(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.3(SKI):c.1164G>A (p.Ala388=) rs780171614
NM_003036.3(SKI):c.1183C>T (p.Pro395Ser) rs773512836
NM_003036.3(SKI):c.1188C>T (p.His396=) rs998931386
NM_003036.3(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.3(SKI):c.1197C>A (p.Ala399=) rs1057522450
NM_003036.3(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.3(SKI):c.1211+10C>T rs200242660
NM_003036.3(SKI):c.1211+11G>A rs115186522
NM_003036.3(SKI):c.1211+17C>T rs753878221
NM_003036.3(SKI):c.1211+19C>T rs182600375
NM_003036.3(SKI):c.1212-8C>T rs370921440
NM_003036.3(SKI):c.1247C>T (p.Ala416Val) rs775044622
NM_003036.3(SKI):c.1254C>T (p.Asn418=) rs536126761
NM_003036.3(SKI):c.1264G>A (p.Ala422Thr) rs760579911
NM_003036.3(SKI):c.1269G>A (p.Pro423=) rs375600617
NM_003036.3(SKI):c.1271C>T (p.Pro424Leu) rs764317955
NM_003036.3(SKI):c.1272G>A (p.Pro424=) rs552946737
NM_003036.3(SKI):c.1294A>G (p.Ser432Gly) rs368739670
NM_003036.3(SKI):c.1301C>T (p.Pro434Leu) rs768068601
NM_003036.3(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.3(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.3(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.3(SKI):c.1329C>T (p.Pro443=) rs150033567
NM_003036.3(SKI):c.1338C>T (p.Leu446=) rs148632347
NM_003036.3(SKI):c.138C>T (p.Ala46=) rs745527890
NM_003036.3(SKI):c.1410C>T (p.Pro470=) rs150985728
NM_003036.3(SKI):c.1420C>G (p.Pro474Ala) rs1057518494
NM_003036.3(SKI):c.1421C>T (p.Pro474Leu) rs1553200918
NM_003036.3(SKI):c.142A>C (p.Lys48Gln) rs946543006
NM_003036.3(SKI):c.1440G>A (p.Ser480=) rs185754530
NM_003036.3(SKI):c.1445C>T (p.Ala482Val) rs372475723
NM_003036.3(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.3(SKI):c.1447delG (p.Glu483Argfs) rs1553200934
NM_003036.3(SKI):c.1474+4C>A rs780930093
NM_003036.3(SKI):c.147G>A (p.Lys49=) rs1043627749
NM_003036.3(SKI):c.1480T>A (p.Ser494Thr) rs781304969
NM_003036.3(SKI):c.1506G>A (p.Pro502=) rs975738197
NM_003036.3(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.3(SKI):c.1528G>A (p.Ala510Thr) rs61735580
NM_003036.3(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.3(SKI):c.1556G>A (p.Arg519His) rs376322470
NM_003036.3(SKI):c.1573G>A (p.Val525Ile) rs141961299
NM_003036.3(SKI):c.1584_1586delTGC (p.Ala530del) rs863223725
NM_003036.3(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.3(SKI):c.15_24dup (p.Gly9Argfs) rs1553189805
NM_003036.3(SKI):c.1608T>C (p.Ser536=) rs1553201055
NM_003036.3(SKI):c.1619C>T (p.Ala540Val) rs764786977
NM_003036.3(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.3(SKI):c.1700T>C (p.Val567Ala) rs887731777
NM_003036.3(SKI):c.1734C>T (p.Ser578=) rs117443908
NM_003036.3(SKI):c.1739C>T (p.Ala580Val) rs1397350089
NM_003036.3(SKI):c.1767+11C>T rs202132957
NM_003036.3(SKI):c.1767+9G>T rs181520853
NM_003036.3(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.3(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.3(SKI):c.1851G>A (p.Glu617=) rs146789646
NM_003036.3(SKI):c.185C>G (p.Ala62Gly) rs28384811
NM_003036.3(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.3(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.3(SKI):c.1877_1879delAGA (p.Lys626del) rs863223726
NM_003036.3(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.3(SKI):c.1932G>A (p.Ala644=) rs1057521646
NM_003036.3(SKI):c.1935G>T (p.Arg645=) rs751933078
NM_003036.3(SKI):c.1938G>A (p.Gln646=) rs757701064
NM_003036.3(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.3(SKI):c.1976T>G (p.Leu659Arg) rs1421285699
NM_003036.3(SKI):c.1998+9G>A rs533071160
NM_003036.3(SKI):c.1999-16C>T rs1057523169
NM_003036.3(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.3(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.3(SKI):c.2056G>A (p.Ala686Thr) rs756553942
NM_003036.3(SKI):c.2064G>C (p.Leu688=) rs1057522396
NM_003036.3(SKI):c.2128T>C (p.Trp710Arg) rs863223728
NM_003036.3(SKI):c.2140C>T (p.Arg714Cys) rs1361712039
NM_003036.3(SKI):c.2141G>A (p.Arg714His) rs754486257
NM_003036.3(SKI):c.2153C>G (p.Ala718Gly) rs863223721
NM_003036.3(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.3(SKI):c.2174A>C (p.Glu725Ala) rs747798210
NM_003036.3(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003036.3(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.3(SKI):c.312A>T (p.Val104=) rs368195821
NM_003036.3(SKI):c.342G>T (p.Val114=) rs1057523880
NM_003036.3(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003036.3(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.3(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.3(SKI):c.437_439dup (p.Leu146_His147insLeu) rs1553189926
NM_003036.3(SKI):c.456C>T (p.Arg152=) rs149898447
NM_003036.3(SKI):c.464C>G (p.Ala155Gly) rs559020511
NM_003036.3(SKI):c.499_500delCTinsGG (p.Leu167Gly) rs863223724
NM_003036.3(SKI):c.511G>A (p.Ala171Thr) rs762117658
NM_003036.3(SKI):c.516C>T (p.Pro172=) rs182513685
NM_003036.3(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.3(SKI):c.567G>C (p.Leu189=) rs752411031
NM_003036.3(SKI):c.570C>T (p.Leu190=) rs1253539827
NM_003036.3(SKI):c.640A>G (p.Ser214Gly) rs139179843
NM_003036.3(SKI):c.687G>A (p.Lys229=) rs750391739
NM_003036.3(SKI):c.702C>G (p.Pro234=) rs1057523205
NM_003036.3(SKI):c.726C>T (p.Ala242=) rs139227600
NM_003036.3(SKI):c.736C>T (p.Gln246Ter) rs1064796874
NM_003036.3(SKI):c.75C>T (p.His25=) rs1486448334
NM_003036.3(SKI):c.768G>A (p.Pro256=) rs1057521232
NM_003036.3(SKI):c.796_797delGCinsT (p.Ala266Serfs) rs1553190048
NM_003036.3(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.3(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.3(SKI):c.844C>A (p.Arg282=) rs753783431
NM_003036.3(SKI):c.845G>A (p.Arg282Gln) rs1057524781
NM_003036.3(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.3(SKI):c.906C>T (p.Arg302=) rs772758586
NM_003036.3(SKI):c.919G>A (p.Val307Met) rs775192483
NM_003036.3(SKI):c.938A>G (p.Tyr313Cys) rs767730615
NM_003036.3(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.3(SKI):c.970-10T>C rs750601690
NM_003036.3(SKI):c.970-7A>G rs199634070
NM_003036.3(SKI):c.994A>G (p.Ile332Val) rs374264201
NM_003036.3(SKI):c.99C>G (p.Gly33=) rs200019352

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