ClinVar Miner

List of variants in gene SKI reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 49
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HGVS dbSNP
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131
NM_003036.4(SKI):c.1039del (p.Ser347fs) rs1553200666
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294
NM_003036.4(SKI):c.1098C>G (p.Ser366Arg) rs1553200726
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528
NM_003036.4(SKI):c.1139G>A (p.Arg380Gln) rs760033804
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872
NM_003036.4(SKI):c.1183C>T (p.Pro395Ser) rs773512836
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1247C>T (p.Ala416Val) rs775044622
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly) rs368739670
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu) rs768068601
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala) rs1057518494
NM_003036.4(SKI):c.1421C>T (p.Pro474Leu) rs1553200918
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006
NM_003036.4(SKI):c.1445C>T (p.Ala482Val) rs372475723
NM_003036.4(SKI):c.1447del (p.Glu483fs) rs1553200934
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.4(SKI):c.1556G>A (p.Arg519His) rs376322470
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299
NM_003036.4(SKI):c.1581_1583TGC[1] (p.Ala530del) rs863223725
NM_003036.4(SKI):c.15_24dup (p.Gly9fs) rs1553189805
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977
NM_003036.4(SKI):c.1700T>C (p.Val567Ala) rs887731777
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.1871_1873AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.4(SKI):c.1976T>G (p.Leu659Arg) rs1421285699
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728
NM_003036.4(SKI):c.2140C>T (p.Arg714Cys) rs1361712039
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003036.4(SKI):c.437_439dup (p.Leu146dup) rs1553189926
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511
NM_003036.4(SKI):c.511G>A (p.Ala171Thr) rs762117658
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843
NM_003036.4(SKI):c.736C>T (p.Gln246Ter) rs1064796874
NM_003036.4(SKI):c.796_797delinsT (p.Ala266fs) rs1553190048
NM_003036.4(SKI):c.845G>A (p.Arg282Gln) rs1057524781
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615

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