ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210 0.00019
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.170C>T (p.Ala57Val) rs1389185868 0.00008
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872 0.00006
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955 0.00006
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003036.4(SKI):c.1406C>T (p.Ala469Val) rs746659856 0.00004
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031 0.00004
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977 0.00004
NM_003036.4(SKI):c.1711G>A (p.Val571Met) rs190373826 0.00004
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477 0.00004
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131 0.00003
NM_003036.4(SKI):c.1426G>A (p.Glu476Lys) rs1553200926 0.00003
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006 0.00003
NM_003036.4(SKI):c.1445C>T (p.Ala482Val) rs372475723 0.00003
NM_003036.4(SKI):c.1556G>A (p.Arg519His) rs376322470 0.00003
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 0.00003
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln) rs748681103 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.188C>T (p.Pro63Leu) rs766569890 0.00003
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513 0.00003
NM_003036.4(SKI):c.878G>A (p.Gly293Asp) rs756571135 0.00003
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745 0.00003
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743 0.00003
NM_003036.4(SKI):c.1034C>T (p.Ala345Val) rs201599402 0.00002
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp) rs370418830 0.00002
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911 0.00002
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu) rs752779978 0.00002
NM_003036.4(SKI):c.1439C>T (p.Ser480Leu) rs367916348 0.00002
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969 0.00002
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser) rs1010245755 0.00002
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys) rs377517039 0.00002
NM_003036.4(SKI):c.190G>A (p.Val64Met) rs754036418 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615 0.00002
NM_003036.4(SKI):c.985C>T (p.Pro329Ser) rs770539313 0.00002
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys) rs749507746 0.00001
NM_003036.4(SKI):c.1247C>T (p.Ala416Val) rs775044622 0.00001
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly) rs368739670 0.00001
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu) rs768068601 0.00001
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr) rs1325458157 0.00001
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala) rs1057518494 0.00001
NM_003036.4(SKI):c.1700T>C (p.Val567Ala) rs887731777 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089 0.00001
NM_003036.4(SKI):c.2014G>A (p.Val672Met) rs1339249855 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728 0.00001
NM_003036.4(SKI):c.2140C>T (p.Arg714Cys) rs1361712039 0.00001
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp) rs1381348497 0.00001
NM_003036.4(SKI):c.235A>G (p.Ile79Val) rs1638568678 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003036.4(SKI):c.611C>T (p.Ala204Val) rs772336192 0.00001
NM_003036.4(SKI):c.896G>T (p.Arg299Leu) rs1482824984 0.00001
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483 0.00001
NM_003036.4(SKI):c.1028C>A (p.Ser343Tyr) rs988023964
NM_003036.4(SKI):c.1032dup (p.Ala345fs)
NM_003036.4(SKI):c.1039del (p.Ser347fs) rs1553200666
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile) rs763338270
NM_003036.4(SKI):c.1098C>G (p.Ser366Arg) rs1553200726
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys) rs1038237858
NM_003036.4(SKI):c.1139G>A (p.Arg380Gln) rs760033804
NM_003036.4(SKI):c.1183C>T (p.Pro395Ser) rs773512836
NM_003036.4(SKI):c.1186C>A (p.His396Asn)
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser) rs1640476669
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu) rs2100918174
NM_003036.4(SKI):c.1238C>T (p.Thr413Ile) rs2100918212
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
NM_003036.4(SKI):c.136G>T (p.Ala46Ser) rs1300049118
NM_003036.4(SKI):c.13G>A (p.Ala5Thr) rs2100789382
NM_003036.4(SKI):c.1421C>T (p.Pro474Leu) rs1553200918
NM_003036.4(SKI):c.1447del (p.Glu483fs) rs1553200934
NM_003036.4(SKI):c.1547C>A (p.Pro516Gln)
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del) rs863223725
NM_003036.4(SKI):c.15_24dup (p.Gly9fs) rs1553189805
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser) rs1434790266
NM_003036.4(SKI):c.1720GAG[1] (p.Glu575del)
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898
NM_003036.4(SKI):c.1765dup (p.Gln589fs) rs2100920538
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.1840_1842del (p.Lys614del) rs2100924042
NM_003036.4(SKI):c.1870G>C (p.Glu624Gln) rs1380239367
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1934G>A (p.Arg645Gln)
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1943G>C (p.Arg648Pro) rs1489484319
NM_003036.4(SKI):c.1945G>C (p.Val649Leu)
NM_003036.4(SKI):c.1976T>G (p.Leu659Arg) rs1421285699
NM_003036.4(SKI):c.1991C>T (p.Ser664Leu) rs1306616273
NM_003036.4(SKI):c.19G>A (p.Gly7Ser) rs2100789403
NM_003036.4(SKI):c.2050dup (p.Leu684fs)
NM_003036.4(SKI):c.2094G>A (p.Leu698=)
NM_003036.4(SKI):c.212C>T (p.Pro71Leu)
NM_003036.4(SKI):c.2135G>T (p.Arg712Leu) rs1418253983
NM_003036.4(SKI):c.2155G>A (p.Gly719Ser)
NM_003036.4(SKI):c.2165G>T (p.Gly722Val) rs1488554459
NM_003036.4(SKI):c.2173_2184dup (p.Pro728_Ter729insGluLeuGluPro)
NM_003036.4(SKI):c.266C>G (p.Pro89Arg) rs2100789913
NM_003036.4(SKI):c.26G>A (p.Gly9Asp) rs2100789413
NM_003036.4(SKI):c.37C>G (p.Pro13Ala) rs1460907031
NM_003036.4(SKI):c.437_439dup (p.Leu146dup) rs1553189926
NM_003036.4(SKI):c.44C>T (p.Pro15Leu)
NM_003036.4(SKI):c.451T>C (p.Ser151Pro) rs1638575037
NM_003036.4(SKI):c.46G>A (p.Gly16Arg)
NM_003036.4(SKI):c.505T>C (p.Phe169Leu)
NM_003036.4(SKI):c.509C>T (p.Ser170Leu) rs2100790364
NM_003036.4(SKI):c.511G>A (p.Ala171Thr) rs762117658
NM_003036.4(SKI):c.605A>C (p.Glu202Ala) rs977288994
NM_003036.4(SKI):c.636_658del (p.Glu212fs)
NM_003036.4(SKI):c.656G>A (p.Arg219His) rs1638580742
NM_003036.4(SKI):c.674T>G (p.Phe225Cys) rs2100790704
NM_003036.4(SKI):c.686dup (p.Leu231fs)
NM_003036.4(SKI):c.712A>G (p.Ser238Gly)
NM_003036.4(SKI):c.727G>A (p.Ala243Thr)
NM_003036.4(SKI):c.736C>T (p.Gln246Ter) rs1064796874
NM_003036.4(SKI):c.767C>T (p.Pro256Leu) rs2100790888
NM_003036.4(SKI):c.793A>G (p.Lys265Glu) rs2100790915
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.898C>T (p.Leu300Phe) rs1569660908
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.982C>G (p.Pro328Ala)
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)

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