ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 264
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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.170C>T (p.Ala57Val) rs1389185868 0.00008
NM_003036.4(SKI):c.242C>A (p.Pro81Gln) rs542659326 0.00008
NM_003036.4(SKI):c.1274C>T (p.Ala425Val) rs199997665 0.00007
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00007
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955 0.00006
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.247C>T (p.Pro83Ser) rs201590284 0.00005
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.464C>G (p.Ala155Gly) rs559020511 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.1913A>G (p.Lys638Arg) rs921915068 0.00003
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr) rs771845588 0.00003
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln) rs1038419071 0.00003
NM_003036.4(SKI):c.318A>T (p.Glu106Asp) rs564817940 0.00003
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513 0.00003
NM_003036.4(SKI):c.86T>G (p.Met29Arg) rs779415339 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.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.1325C>T (p.Ala442Val) rs780554312 0.00002
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe) rs1464178129 0.00002
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile) rs141464453 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969 0.00002
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu) rs1640510465 0.00002
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys) rs1225179301 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.1735G>A (p.Ala579Thr) rs370558210 0.00002
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00002
NM_003036.4(SKI):c.190G>A (p.Val64Met) rs754036418 0.00002
NM_003036.4(SKI):c.191T>G (p.Val64Gly) rs1330346480 0.00002
NM_003036.4(SKI):c.2014G>A (p.Val672Met) rs1339249855 0.00002
NM_003036.4(SKI):c.2047C>G (p.Gln683Glu) rs1425076302 0.00002
NM_003036.4(SKI):c.209C>T (p.Pro70Leu) rs994969301 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.898C>T (p.Leu300Phe) rs1569660908 0.00002
NM_003036.4(SKI):c.901G>A (p.Gly301Ser) rs1445231657 0.00002
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615 0.00002
NM_003036.4(SKI):c.1019C>A (p.Ser340Tyr) rs557788926 0.00001
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser) rs2521471939 0.00001
NM_003036.4(SKI):c.1034C>T (p.Ala345Val) rs201599402 0.00001
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro) rs768686539 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr) rs375569215 0.00001
NM_003036.4(SKI):c.1094A>G (p.Lys365Arg) rs1482153836 0.00001
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys) rs749507746 0.00001
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile) rs749419969 0.00001
NM_003036.4(SKI):c.116C>T (p.Ser39Leu) rs746485528 0.00001
NM_003036.4(SKI):c.1189C>G (p.Leu397Val) rs371268096 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.1307C>T (p.Ala436Val) rs747798055 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.1357C>T (p.Arg453Trp) rs745779877 0.00001
NM_003036.4(SKI):c.1391C>T (p.Ala464Val) rs755404233 0.00001
NM_003036.4(SKI):c.1398G>T (p.Glu466Asp) rs1319885450 0.00001
NM_003036.4(SKI):c.139T>C (p.Tyr47His) rs1303337266 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.1433A>G (p.Lys478Arg) rs1290176972 0.00001
NM_003036.4(SKI):c.1445C>T (p.Ala482Val) rs372475723 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.1565C>T (p.Pro522Leu) rs1364653973 0.00001
NM_003036.4(SKI):c.1589C>T (p.Ala530Val) rs1202147041 0.00001
NM_003036.4(SKI):c.163G>C (p.Ala55Pro) rs769506718 0.00001
NM_003036.4(SKI):c.1687C>G (p.Leu563Val) rs868545143 0.00001
NM_003036.4(SKI):c.1705A>G (p.Met569Val) rs1390123596 0.00001
NM_003036.4(SKI):c.1706T>C (p.Met569Thr) rs539988362 0.00001
NM_003036.4(SKI):c.1709G>A (p.Arg570His) rs1203082758 0.00001
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089 0.00001
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898 0.00001
NM_003036.4(SKI):c.1786G>C (p.Val596Leu) rs774196267 0.00001
NM_003036.4(SKI):c.184G>T (p.Ala62Ser) rs1440479467 0.00001
NM_003036.4(SKI):c.188C>T (p.Pro63Leu) rs766569890 0.00001
NM_003036.4(SKI):c.1955A>G (p.Lys652Arg) rs756709387 0.00001
NM_003036.4(SKI):c.1996C>G (p.Gln666Glu) rs1355489950 0.00001
NM_003036.4(SKI):c.199G>A (p.Ala67Thr) rs1248986464 0.00001
NM_003036.4(SKI):c.2001C>G (p.Ile667Met) rs1640588870 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.2168C>A (p.Ala723Asp) rs1264586139 0.00001
NM_003036.4(SKI):c.217G>A (p.Val73Met) rs1412398423 0.00001
NM_003036.4(SKI):c.28T>G (p.Cys10Gly) rs1188688992 0.00001
NM_003036.4(SKI):c.293C>T (p.Thr98Ile) rs1257955729 0.00001
NM_003036.4(SKI):c.316G>C (p.Glu106Gln) rs1638571163 0.00001
NM_003036.4(SKI):c.320G>A (p.Gly107Asp) rs979256214 0.00001
NM_003036.4(SKI):c.340G>A (p.Val114Met) rs1165144413 0.00001
NM_003036.4(SKI):c.422C>T (p.Ala141Val) rs762205602 0.00001
NM_003036.4(SKI):c.435G>C (p.Glu145Asp) rs1221007732 0.00001
NM_003036.4(SKI):c.562G>A (p.Ala188Thr) rs377092419 0.00001
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576 0.00001
NM_003036.4(SKI):c.637C>G (p.Leu213Val) rs777216862 0.00001
NM_003036.4(SKI):c.848C>T (p.Ala283Val) rs931048225 0.00001
NM_003036.4(SKI):c.877G>A (p.Gly293Ser) rs1638585923 0.00001
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801 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.959G>A (p.Arg320Gln) rs754316077 0.00001
NM_003036.4(SKI):c.970-3C>T rs1472547715 0.00001
NM_003036.4(SKI):c.974C>T (p.Ser325Phe) rs779414606 0.00001
NM_003036.4(SKI):c.986C>T (p.Pro329Leu) rs1407167491 0.00001
NM_003036.4(SKI):c.1003A>C (p.Lys335Gln) rs2521471453
NM_003036.4(SKI):c.1048G>A (p.Asp350Asn)
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr) rs755862763
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile) rs1454556492
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser) rs2521472684
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys) rs1038237858
NM_003036.4(SKI):c.1127T>C (p.Leu376Pro)
NM_003036.4(SKI):c.1129T>G (p.Ser377Ala) rs2521475112
NM_003036.4(SKI):c.114C>G (p.Phe38Leu)
NM_003036.4(SKI):c.1177C>A (p.Leu393Ile) rs768838307
NM_003036.4(SKI):c.1184C>G (p.Pro395Arg) rs2521475829
NM_003036.4(SKI):c.1198C>T (p.Leu400Phe) rs1206358847
NM_003036.4(SKI):c.119C>T (p.Ala40Val) rs1380338130
NM_003036.4(SKI):c.1204C>G (p.Arg402Gly) rs1640477163
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1220C>T (p.Ser407Phe) rs1640489820
NM_003036.4(SKI):c.1223A>G (p.Tyr408Cys)
NM_003036.4(SKI):c.1293C>A (p.Ser431Arg)
NM_003036.4(SKI):c.1294A>T (p.Ser432Cys) rs368739670
NM_003036.4(SKI):c.1315G>T (p.Val439Phe) rs575093513
NM_003036.4(SKI):c.1316T>C (p.Val439Ala)
NM_003036.4(SKI):c.131A>T (p.Gln44Leu) rs1233481050
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln) rs1165905597
NM_003036.4(SKI):c.1325C>A (p.Ala442Asp) rs780554312
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala) rs1569860183
NM_003036.4(SKI):c.134A>C (p.Glu45Ala) rs2527575813
NM_003036.4(SKI):c.1357C>G (p.Arg453Gly) rs745779877
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp) rs1640495570
NM_003036.4(SKI):c.1373C>T (p.Thr458Ile) rs2521486150
NM_003036.4(SKI):c.137C>G (p.Ala46Gly) rs1210974703
NM_003036.4(SKI):c.1381A>G (p.Thr461Ala)
NM_003036.4(SKI):c.1384C>T (p.Pro462Ser)
NM_003036.4(SKI):c.1403T>A (p.Leu468Gln) rs2521486793
NM_003036.4(SKI):c.1415C>T (p.Ala472Val) rs2521487213
NM_003036.4(SKI):c.1418C>T (p.Ala473Val) rs1198385228
NM_003036.4(SKI):c.1420C>T (p.Pro474Ser) rs1057518494
NM_003036.4(SKI):c.1424A>G (p.Glu475Gly) rs760799232
NM_003036.4(SKI):c.1426G>C (p.Glu476Gln)
NM_003036.4(SKI):c.1427A>C (p.Glu476Ala) rs2521487562
NM_003036.4(SKI):c.1439C>G (p.Ser480Trp) rs367916348
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del) rs762410895
NM_003036.4(SKI):c.1450G>A (p.Val484Met) rs2521488078
NM_003036.4(SKI):c.1453G>C (p.Glu485Gln)
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser) rs1206452604
NM_003036.4(SKI):c.1487T>C (p.Leu496Ser) rs1640510121
NM_003036.4(SKI):c.14C>G (p.Ala5Gly)
NM_003036.4(SKI):c.1517C>T (p.Ser506Leu)
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser) rs61735580
NM_003036.4(SKI):c.152G>A (p.Ser51Asn) rs2527575920
NM_003036.4(SKI):c.154G>A (p.Ala52Thr)
NM_003036.4(SKI):c.154G>T (p.Ala52Ser) rs2527575930
NM_003036.4(SKI):c.1550G>C (p.Gly517Ala)
NM_003036.4(SKI):c.1558G>A (p.Ala520Thr)
NM_003036.4(SKI):c.155C>T (p.Ala52Val) rs1362296627
NM_003036.4(SKI):c.1592C>G (p.Pro531Arg)
NM_003036.4(SKI):c.1597G>A (p.Asp533Asn) rs1410289192
NM_003036.4(SKI):c.1627G>A (p.Glu543Lys) rs2521493863
NM_003036.4(SKI):c.1628A>G (p.Glu543Gly) rs1640516096
NM_003036.4(SKI):c.1630C>T (p.His544Tyr) rs868285274
NM_003036.4(SKI):c.1634T>C (p.Leu545Pro)
NM_003036.4(SKI):c.1650G>T (p.Glu550Asp)
NM_003036.4(SKI):c.1667A>G (p.Lys556Arg)
NM_003036.4(SKI):c.1675A>C (p.Lys559Gln) rs1391214846
NM_003036.4(SKI):c.16G>C (p.Gly6Arg)
NM_003036.4(SKI):c.1719G>T (p.Gln573His) rs1282501605
NM_003036.4(SKI):c.1741C>G (p.Leu581Val) rs750462317
NM_003036.4(SKI):c.1753C>T (p.Arg585Cys) rs758469054
NM_003036.4(SKI):c.1783C>T (p.Arg595Cys)
NM_003036.4(SKI):c.1789G>A (p.Ala597Thr)
NM_003036.4(SKI):c.1825A>G (p.Lys609Glu)
NM_003036.4(SKI):c.1848C>G (p.Ile616Met) rs1044806468
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr) rs745318544
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp) rs748886393
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1880T>A (p.Met627Lys)
NM_003036.4(SKI):c.1885G>C (p.Glu629Gln) rs2521513112
NM_003036.4(SKI):c.1892A>G (p.Asn631Ser)
NM_003036.4(SKI):c.1907G>A (p.Arg636His)
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1963G>A (p.Glu655Lys) rs2521514735
NM_003036.4(SKI):c.1973G>A (p.Arg658His)
NM_003036.4(SKI):c.1975C>G (p.Leu659Val)
NM_003036.4(SKI):c.200C>A (p.Ala67Asp) rs1488816694
NM_003036.4(SKI):c.2014G>T (p.Val672Leu) rs1339249855
NM_003036.4(SKI):c.2049_2090del (p.Gln683_Glu696del) rs2521521943
NM_003036.4(SKI):c.2056G>T (p.Ala686Ser) rs756553942
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly) rs1216955747
NM_003036.4(SKI):c.2057C>T (p.Ala686Val) rs1216955747
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu) rs1021794039
NM_003036.4(SKI):c.2098_2099delinsGT (p.Lys700Val) rs2521523410
NM_003036.4(SKI):c.2140C>G (p.Arg714Gly) rs1361712039
NM_003036.4(SKI):c.2147A>T (p.Glu716Val) rs2521524370
NM_003036.4(SKI):c.217G>T (p.Val73Leu) rs1412398423
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?) rs2521525489
NM_003036.4(SKI):c.220C>G (p.Leu74Val) rs2527576517
NM_003036.4(SKI):c.233C>T (p.Ala78Val)
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.260C>G (p.Pro87Arg) rs1183118109
NM_003036.4(SKI):c.262G>C (p.Gly88Arg)
NM_003036.4(SKI):c.273C>G (p.Phe91Leu)
NM_003036.4(SKI):c.274A>C (p.Met92Leu)
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.326C>T (p.Thr109Ile) rs1638571393
NM_003036.4(SKI):c.328A>G (p.Ile110Val) rs2527577047
NM_003036.4(SKI):c.332C>G (p.Ser111Trp)
NM_003036.4(SKI):c.33C>G (p.Phe11Leu) rs1045231306
NM_003036.4(SKI):c.340G>T (p.Val114Leu) rs1165144413
NM_003036.4(SKI):c.36G>C (p.Gln12His) rs1372935125
NM_003036.4(SKI):c.38C>T (p.Pro13Leu) rs1170200657
NM_003036.4(SKI):c.403T>G (p.Ser135Ala)
NM_003036.4(SKI):c.41A>C (p.His14Pro) rs1232615367
NM_003036.4(SKI):c.442A>T (p.Ile148Phe)
NM_003036.4(SKI):c.46G>A (p.Gly16Arg) rs2527575289
NM_003036.4(SKI):c.487G>A (p.Val163Ile) rs878854599
NM_003036.4(SKI):c.507C>A (p.Phe169Leu)
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) rs1198852230
NM_003036.4(SKI):c.568C>G (p.Leu190Val)
NM_003036.4(SKI):c.581C>A (p.Ala194Asp) rs746882046
NM_003036.4(SKI):c.587C>T (p.Pro196Leu) rs1638578545
NM_003036.4(SKI):c.592C>T (p.Pro198Ser) rs1158858781
NM_003036.4(SKI):c.601A>C (p.Lys201Gln) rs1184979307
NM_003036.4(SKI):c.605A>C (p.Glu202Ala) rs977288994
NM_003036.4(SKI):c.637C>T (p.Leu213Phe) rs777216862
NM_003036.4(SKI):c.638T>G (p.Leu213Arg) rs2527578803
NM_003036.4(SKI):c.647G>C (p.Arg216Pro) rs1399726894
NM_003036.4(SKI):c.64G>A (p.Glu22Lys) rs766670389
NM_003036.4(SKI):c.652G>T (p.Val218Phe)
NM_003036.4(SKI):c.655C>T (p.Arg219Cys) rs1226163559
NM_003036.4(SKI):c.664C>G (p.His222Asp) rs1553189999
NM_003036.4(SKI):c.742C>G (p.Leu248Val)
NM_003036.4(SKI):c.754C>T (p.Leu252Phe)
NM_003036.4(SKI):c.757A>C (p.Met253Leu) rs767352419
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr) rs1557807366
NM_003036.4(SKI):c.833C>A (p.Ser278Ter) rs2527579666
NM_003036.4(SKI):c.875C>T (p.Thr292Met) rs530491488
NM_003036.4(SKI):c.878G>T (p.Gly293Val)
NM_003036.4(SKI):c.89G>A (p.Ser30Asn) rs1638562525
NM_003036.4(SKI):c.965C>G (p.Pro322Arg) rs1488369817
NM_003036.4(SKI):c.967C>T (p.Arg323Trp) rs1365734743
NM_003036.4(SKI):c.968G>A (p.Arg323Gln)
NM_003036.4(SKI):c.982C>G (p.Pro328Ala) rs2100916031
NM_003036.4(SKI):c.983C>T (p.Pro328Leu) rs777251951

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