ClinVar Miner

List of variants in gene SKI studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.970-166A>G rs1496555 0.87546
NM_003036.4(SKI):c.1475-60C>T rs2843159 0.27552
NM_003036.4(SKI):c.1211+180T>C rs4648631 0.21890
NM_003036.4(SKI):c.969+316C>T rs3765930 0.20949
NM_003036.4(SKI):c.1211+64C>T rs2256178 0.20663
NM_003036.4(SKI):c.1475-70G>A rs2645073 0.19245
NM_003036.4(SKI):c.1095+90G>A rs2279702 0.13014
NM_003036.4(SKI):c.*33A>T rs2230008 0.11700
NM_003036.4(SKI):c.1475-76G>A rs11577387 0.10612
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_003036.4(SKI):c.1768-307T>G rs75635289 0.03451
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1998+63T>C rs186951424 0.00910
NM_003036.4(SKI):c.1096-39T>C rs190301434 0.00779
NM_003036.4(SKI):c.1767+37C>T rs114330959 0.00758
NM_003036.4(SKI):c.969+323C>T rs144963770 0.00724
NM_003036.4(SKI):c.1211+173C>T rs150347326 0.00708
NM_003036.4(SKI):c.1999-43A>G rs371963326 0.00651
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_003036.4(SKI):c.*39G>A rs191800649 0.00569
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003036.4(SKI):c.1999-70G>T rs550656878 0.00390
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009 0.00035
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_003036.4(SKI):c.1302G>A (p.Pro434=) rs111459205 0.00026
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772 0.00026
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210 0.00019
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530 0.00016
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037 0.00016
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
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.1164G>A (p.Ala388=) rs780171614 0.00009
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
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.1587G>A (p.Ala529=) rs542301067 0.00007
NM_003036.4(SKI):c.*17C>T rs746845280 0.00006
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872 0.00006
NM_003036.4(SKI):c.1182C>T (p.Ser394=) rs542616415 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955 0.00006
NM_003036.4(SKI):c.1923G>A (p.Leu641=) rs199666240 0.00006
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003036.4(SKI):c.1096-5G>A rs566936949 0.00005
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.1263C>T (p.Leu421=) rs773045410 0.00005
NM_003036.4(SKI):c.450C>T (p.Cys150=) rs538703800 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003036.4(SKI):c.1041C>T (p.Ser347=) rs140745811 0.00004
NM_003036.4(SKI):c.1096-6C>T rs201304370 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
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.1767+12G>A rs772577806 0.00004
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477 0.00004
NM_003036.4(SKI):c.696G>A (p.Leu232=) rs748272908 0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131 0.00003
NM_003036.4(SKI):c.1124G>A (p.Arg375His) rs762209697 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.1866G>A (p.Glu622=) rs748886393 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.2154G>T (p.Ala718=) rs778456446 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.970-7A>G rs199634070 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.1336C>T (p.Leu446Phe) rs1464178129 0.00002
NM_003036.4(SKI):c.1439C>T (p.Ser480Leu) rs367916348 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.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003036.4(SKI):c.762C>T (p.Tyr254=) rs56352201 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.1032C>T (p.Pro344=) rs766656095 0.00001
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.1128C>T (p.Leu376=) rs773793743 0.00001
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu) rs776248526 0.00001
NM_003036.4(SKI):c.1212-21G>C rs552065460 0.00001
NM_003036.4(SKI):c.1243G>A (p.Val415Met) rs770481744 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.1485C>T (p.Ser495=) rs964817956 0.00001
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) rs1057520161 0.00001
NM_003036.4(SKI):c.1506G>A (p.Pro502=) rs975738197 0.00001
NM_003036.4(SKI):c.1521C>T (p.Ser507=) rs1430227962 0.00001
NM_003036.4(SKI):c.163G>C (p.Ala55Pro) rs769506718 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.1999-11C>T rs1022360604 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.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2125C>T (p.Leu709=) rs1478769141 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.324G>A (p.Glu108=) rs201144990 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003036.4(SKI):c.573C>T (p.Tyr191=) rs777704639 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.906C>T (p.Arg302=) rs772758586 0.00001
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483 0.00001
NM_003036.4(SKI):c.*17_*36del rs1356960548
NM_003036.4(SKI):c.*4C>T rs1330809659
NM_003036.4(SKI):c.-11C>G rs1246353625
NM_003036.4(SKI):c.-46C>T rs1569656260
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.1025A>G (p.Gln342Arg) rs377336741
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu) rs377336741
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.1096-7T>G rs2100916839
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.1148C>T (p.Ser383Phe)
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.1198C>T (p.Leu400Phe) rs1206358847
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1212-6C>T rs752765206
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.1275C>T (p.Ala425=) rs1569859908
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
NM_003036.4(SKI):c.136G>T (p.Ala46Ser) rs1300049118
NM_003036.4(SKI):c.137C>G (p.Ala46Gly) rs1210974703
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.1425G>A (p.Glu475=) rs766659705
NM_003036.4(SKI):c.1447del (p.Glu483fs) rs1553200934
NM_003036.4(SKI):c.1509C>G (p.Ser503=) rs1338756413
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.1687C>T (p.Leu563=) rs868545143
NM_003036.4(SKI):c.1720GAG[1] (p.Glu575del)
NM_003036.4(SKI):c.173C>T (p.Ala58Val) rs1638564960
NM_003036.4(SKI):c.1754G>A (p.Arg585His) rs1251950898
NM_003036.4(SKI):c.1765dup (p.Gln589fs) rs2100920538
NM_003036.4(SKI):c.1768-211A>G rs11580302
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.1827G>A (p.Lys609=) rs1324710541
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
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.1890C>A (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup) rs1553189874
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.1950C>A (p.Cys650Ter) rs113979182
NM_003036.4(SKI):c.195C>T (p.Pro65=) rs1300771712
NM_003036.4(SKI):c.1968G>T (p.Ala656=) rs754572866
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.1994C>T (p.Ala665Val) rs1557854261
NM_003036.4(SKI):c.1999-153C>G rs57825631
NM_003036.4(SKI):c.19G>A (p.Gly7Ser) rs2100789403
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2050dup (p.Leu684fs)
NM_003036.4(SKI):c.2057C>T (p.Ala686Val) rs1216955747
NM_003036.4(SKI):c.2094G>A (p.Leu698=)
NM_003036.4(SKI):c.2115G>A (p.Leu705=) rs890619764
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.2185_*15del (p.Ter729del)
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.246G>A (p.Pro82=) rs1569657892
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.27C>A (p.Gly9=) rs1476360335
NM_003036.4(SKI):c.349G>A (p.Gly117Ser) rs869312901
NM_003036.4(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003036.4(SKI):c.37C>G (p.Pro13Ala) rs1460907031
NM_003036.4(SKI):c.41A>C (p.His14Pro) rs1232615367
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.474G>T (p.Leu158=) rs1569658918
NM_003036.4(SKI):c.499_500delinsGG (p.Leu167Gly) rs863223724
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.539C>T (p.Thr180Met) rs863223722
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.851A>G (p.Tyr284Cys) rs2100791019
NM_003036.4(SKI):c.855C>T (p.Ile285=) rs1368309114
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.910C>T (p.Leu304=) rs1569660988
NM_003036.4(SKI):c.953dup (p.Arg319fs) rs2100791272
NM_003036.4(SKI):c.968G>T (p.Arg323Leu) rs1638589251
NM_003036.4(SKI):c.969+10971T>C
NM_003036.4(SKI):c.969+18173C>T
NM_003036.4(SKI):c.969+18344C>T
NM_003036.4(SKI):c.969+53C>T rs186753945
NM_003036.4(SKI):c.982C>G (p.Pro328Ala)
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)

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