ClinVar Miner

List of variants in gene SKI reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210 0.00019
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003036.4(SKI):c.170C>T (p.Ala57Val) rs1389185868 0.00008
NM_003036.4(SKI):c.242C>A (p.Pro81Gln) rs542659326 0.00008
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003036.4(SKI):c.247C>T (p.Pro83Ser) rs201590284 0.00006
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.1906C>T (p.Arg636Cys) rs143354709 0.00004
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131 0.00003
NM_003036.4(SKI):c.1187A>G (p.His396Arg) rs987527805 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.1573G>A (p.Val525Ile) rs141961299 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.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.1118G>A (p.Arg373His) rs768924434 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.1336C>T (p.Leu446Phe) rs1464178129 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.190G>A (p.Val64Met) rs754036418 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.892G>T (p.Ala298Ser) rs769113221 0.00002
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615 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.116C>T (p.Ser39Leu) rs746485528 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.1330G>A (p.Glu444Lys) rs747693633 0.00001
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr) rs1325458157 0.00001
NM_003036.4(SKI):c.1411G>T (p.Val471Leu) rs745717087 0.00001
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr) rs371772366 0.00001
NM_003036.4(SKI):c.1474+1G>A rs112549942 0.00001
NM_003036.4(SKI):c.149A>T (p.Glu50Val) rs1158589836 0.00001
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln) rs1038419071 0.00001
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728 0.00001
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139 0.00001
NM_003036.4(SKI):c.293C>T (p.Thr98Ile) rs1257955729 0.00001
NM_003036.4(SKI):c.435G>C (p.Glu145Asp) rs1221007732 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003036.4(SKI):c.562G>A (p.Ala188Thr) rs377092419 0.00001
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483 0.00001
NM_003036.4(SKI):c.925G>A (p.Glu309Lys) rs1553190080 0.00001
NM_003036.4(SKI):c.986C>T (p.Pro329Leu) rs1407167491 0.00001
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr) rs755862763
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
NM_003036.4(SKI):c.1094A>G (p.Lys365Arg)
NM_003036.4(SKI):c.1129T>G (p.Ser377Ala)
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
NM_003036.4(SKI):c.1177C>A (p.Leu393Ile)
NM_003036.4(SKI):c.1184C>G (p.Pro395Arg)
NM_003036.4(SKI):c.1189C>G (p.Leu397Val)
NM_003036.4(SKI):c.1204C>G (p.Arg402Gly)
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1297C>T (p.Pro433Ser)
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
NM_003036.4(SKI):c.1315G>T (p.Val439Phe) rs575093513
NM_003036.4(SKI):c.131A>T (p.Gln44Leu)
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala) rs1569860183
NM_003036.4(SKI):c.1357C>G (p.Arg453Gly)
NM_003036.4(SKI):c.1373C>T (p.Thr458Ile)
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
NM_003036.4(SKI):c.1398G>T (p.Glu466Asp)
NM_003036.4(SKI):c.139T>C (p.Tyr47His)
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
NM_003036.4(SKI):c.1418C>T (p.Ala473Val) rs1198385228
NM_003036.4(SKI):c.1424A>G (p.Glu475Gly)
NM_003036.4(SKI):c.1427A>C (p.Glu476Ala)
NM_003036.4(SKI):c.1433A>G (p.Lys478Arg)
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1450G>A (p.Val484Met)
NM_003036.4(SKI):c.1487T>C (p.Leu496Ser)
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
NM_003036.4(SKI):c.152G>A (p.Ser51Asn)
NM_003036.4(SKI):c.154G>T (p.Ala52Ser)
NM_003036.4(SKI):c.155C>T (p.Ala52Val)
NM_003036.4(SKI):c.1565C>T (p.Pro522Leu)
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
NM_003036.4(SKI):c.1597G>A (p.Asp533Asn)
NM_003036.4(SKI):c.1627G>A (p.Glu543Lys)
NM_003036.4(SKI):c.1628A>G (p.Glu543Gly)
NM_003036.4(SKI):c.1630C>T (p.His544Tyr)
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys) rs1225179301
NM_003036.4(SKI):c.1687C>G (p.Leu563Val)
NM_003036.4(SKI):c.1705A>G (p.Met569Val)
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
NM_003036.4(SKI):c.1709G>A (p.Arg570His)
NM_003036.4(SKI):c.1719G>T (p.Gln573His)
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
NM_003036.4(SKI):c.1753C>T (p.Arg585Cys)
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898
NM_003036.4(SKI):c.1786G>C (p.Val596Leu)
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1885G>C (p.Glu629Gln)
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
NM_003036.4(SKI):c.191T>G (p.Val64Gly)
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1955A>G (p.Lys652Arg)
NM_003036.4(SKI):c.1963G>A (p.Glu655Lys)
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
NM_003036.4(SKI):c.1996C>G (p.Gln666Glu)
NM_003036.4(SKI):c.2001C>G (p.Ile667Met)
NM_003036.4(SKI):c.2014G>T (p.Val672Leu)
NM_003036.4(SKI):c.2047C>G (p.Gln683Glu)
NM_003036.4(SKI):c.2049_2090del (p.Gln683_Glu696del)
NM_003036.4(SKI):c.2056G>T (p.Ala686Ser)
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu) rs1021794039
NM_003036.4(SKI):c.2098_2099delinsGT (p.Lys700Val)
NM_003036.4(SKI):c.2140C>G (p.Arg714Gly)
NM_003036.4(SKI):c.217G>T (p.Val73Leu)
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.260C>G (p.Pro87Arg)
NM_003036.4(SKI):c.28T>G (p.Cys10Gly)
NM_003036.4(SKI):c.29G>A (p.Cys10Tyr) rs1553189820
NM_003036.4(SKI):c.304G>A (p.Glu102Lys) rs1638570854
NM_003036.4(SKI):c.311T>C (p.Val104Ala) rs886039149
NM_003036.4(SKI):c.316G>C (p.Glu106Gln)
NM_003036.4(SKI):c.318A>T (p.Glu106Asp)
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
NM_003036.4(SKI):c.328A>G (p.Ile110Val)
NM_003036.4(SKI):c.33C>G (p.Phe11Leu)
NM_003036.4(SKI):c.340G>T (p.Val114Leu)
NM_003036.4(SKI):c.41A>C (p.His14Pro) rs1232615367
NM_003036.4(SKI):c.46G>A (p.Gly16Arg)
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.560A>G (p.Asn187Ser)
NM_003036.4(SKI):c.581C>A (p.Ala194Asp) rs746882046
NM_003036.4(SKI):c.592C>T (p.Pro198Ser)
NM_003036.4(SKI):c.601A>C (p.Lys201Gln)
NM_003036.4(SKI):c.605A>C (p.Glu202Ala) rs977288994
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576
NM_003036.4(SKI):c.637C>G (p.Leu213Val)
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
NM_003036.4(SKI):c.638T>G (p.Leu213Arg)
NM_003036.4(SKI):c.647G>C (p.Arg216Pro)
NM_003036.4(SKI):c.664C>G (p.His222Asp) rs1553189999
NM_003036.4(SKI):c.757A>C (p.Met253Leu)
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr) rs1557807366
NM_003036.4(SKI):c.833C>A (p.Ser278Ter)
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
NM_003036.4(SKI):c.86T>G (p.Met29Arg)
NM_003036.4(SKI):c.877G>A (p.Gly293Ser)
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.901G>A (p.Gly301Ser)
NM_003036.4(SKI):c.959G>A (p.Arg320Gln)
NM_003036.4(SKI):c.965C>G (p.Pro322Arg)
NM_003036.4(SKI):c.970-3C>T
NM_003036.4(SKI):c.982C>G (p.Pro328Ala)
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)

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