ClinVar Miner

List of variants in gene KRIT1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 183
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln) rs138763545 0.00264
NM_194454.3(KRIT1):c.2025+26A>G rs183850671 0.00225
NM_194454.3(KRIT1):c.846-5dup rs373763254 0.00219
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_194454.3(KRIT1):c.*137del rs543954194 0.00138
NM_194454.3(KRIT1):c.-421+190G>T rs570721041 0.00102
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00097
NM_194454.3(KRIT1):c.*451T>C rs886062486 0.00054
NM_194454.3(KRIT1):c.*46G>A rs369227523 0.00029
NM_194454.3(KRIT1):c.*361C>G rs886062489 0.00024
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00023
NM_194454.3(KRIT1):c.1818+4A>G rs193035191 0.00023
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) rs370766145 0.00016
NM_194454.3(KRIT1):c.*885A>T rs567470870 0.00014
NM_194454.3(KRIT1):c.2152G>A (p.Val718Met) rs140952803 0.00014
NM_194454.3(KRIT1):c.*331G>A rs888560477 0.00012
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His) rs143644029 0.00012
NM_194456.1(KRIT1):c.*1357A>C rs1001963724 0.00012
NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile) rs139690878 0.00011
NM_194454.3(KRIT1):c.*182A>G rs1047129442 0.00010
NM_194454.3(KRIT1):c.*371_*372insG rs886062488 0.00009
NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser) rs202120786 0.00006
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala) rs140396626 0.00006
NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys) rs376805857 0.00005
NM_194454.3(KRIT1):c.*1205T>C rs183584214 0.00004
NM_194454.3(KRIT1):c.*648A>G rs1016578182 0.00004
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe) rs182763805 0.00004
NM_194454.3(KRIT1):c.1436A>C (p.Lys479Thr) rs576080477 0.00004
NM_194454.3(KRIT1):c.1553T>C (p.Val518Ala) rs142071709 0.00004
NM_194454.3(KRIT1):c.2102G>A (p.Ser701Asn) rs760437448 0.00004
NM_194454.3(KRIT1):c.*578A>G rs886062485 0.00003
NM_194454.3(KRIT1):c.391A>G (p.Ile131Val) rs762248954 0.00003
NM_194454.3(KRIT1):c.499C>T (p.Arg167Cys) rs35350895 0.00003
NM_194454.3(KRIT1):c.846-15C>T rs527439925 0.00003
NM_194454.3(KRIT1):c.-174C>A rs886062491 0.00002
NM_194454.3(KRIT1):c.-291T>C rs983066692 0.00002
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys) rs370360812 0.00002
NM_194454.3(KRIT1):c.*77T>C rs1330882008 0.00001
NM_194454.3(KRIT1):c.-421+185C>A rs948520161 0.00001
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met) rs533696377 0.00001
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg) rs1195083508 0.00001
NM_194454.3(KRIT1):c.1208A>G (p.Asn403Ser) rs760935725 0.00001
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala) rs1230178894 0.00001
NM_194454.3(KRIT1):c.1563+6C>T rs1379958318 0.00001
NM_194454.3(KRIT1):c.1565T>C (p.Ile522Thr) rs758188972 0.00001
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=) rs369915828 0.00001
NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg) rs1051131327 0.00001
NM_194454.3(KRIT1):c.2155G>T (p.Val719Leu) rs759149249 0.00001
NM_194454.3(KRIT1):c.2189T>C (p.Met730Thr) rs1251580650 0.00001
NM_194454.3(KRIT1):c.296T>A (p.Leu99Gln) rs1445866560 0.00001
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr) rs1172939308 0.00001
NM_194454.3(KRIT1):c.500G>A (p.Arg167His) rs374246090 0.00001
NM_194454.3(KRIT1):c.547C>G (p.Leu183Val) rs1161802228 0.00001
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg) rs765542241 0.00001
NM_194454.3(KRIT1):c.*1029T>G rs972529527
NM_194454.3(KRIT1):c.*102C>T rs1789932075
NM_194454.3(KRIT1):c.*436C>T rs886062487
NM_194454.3(KRIT1):c.*450A>T rs1488573456
NM_194454.3(KRIT1):c.*62A>C rs886062490
NM_194454.3(KRIT1):c.*859C>T rs1789797274
NM_194454.3(KRIT1):c.*8G>A rs1789950973
NM_194454.3(KRIT1):c.*918C>T rs1789789119
NM_194454.3(KRIT1):c.-307A>T rs886062492
NM_194454.3(KRIT1):c.-394C>T rs886062493
NM_194454.3(KRIT1):c.-420-276C>G rs886062494
NM_194454.3(KRIT1):c.-421+240C>G rs886062495
NM_194454.3(KRIT1):c.103-6T>G
NM_194454.3(KRIT1):c.1036T>A (p.Cys346Ser) rs1131691991
NM_194454.3(KRIT1):c.1043C>T (p.Pro348Leu) rs1209027515
NM_194454.3(KRIT1):c.1096G>A (p.Gly366Arg)
NM_194454.3(KRIT1):c.1117A>G (p.Ile373Val)
NM_194454.3(KRIT1):c.1127A>T (p.Asn376Ile)
NM_194454.3(KRIT1):c.112C>T (p.His38Tyr)
NM_194454.3(KRIT1):c.1145G>A (p.Arg382Lys)
NM_194454.3(KRIT1):c.1150A>G (p.Ile384Val)
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.125T>C (p.Ile42Thr) rs778226731
NM_194454.3(KRIT1):c.1268G>A (p.Arg423Gln) rs778239873
NM_194454.3(KRIT1):c.1302T>A (p.Val434=)
NM_194454.3(KRIT1):c.1327A>T (p.Thr443Ser)
NM_194454.3(KRIT1):c.1338G>C (p.Gln446His)
NM_194454.3(KRIT1):c.1342A>G (p.Met448Val)
NM_194454.3(KRIT1):c.1354C>T (p.Arg452Cys)
NM_194454.3(KRIT1):c.1355G>T (p.Arg452Leu) rs201272513
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu) rs138431665
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)
NM_194454.3(KRIT1):c.1411+22T>A
NM_194454.3(KRIT1):c.1411+2_1411+5del
NM_194454.3(KRIT1):c.1412-3C>G
NM_194454.3(KRIT1):c.1419A>G (p.Gln473=) rs748732288
NM_194454.3(KRIT1):c.1453C>T (p.Arg485Cys)
NM_194454.3(KRIT1):c.1456G>A (p.Asp486Asn)
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=) rs1563263055
NM_194454.3(KRIT1):c.1564-8_1564-4del
NM_194454.3(KRIT1):c.1564A>G (p.Ile522Val)
NM_194454.3(KRIT1):c.1572C>A (p.Asp524Glu)
NM_194454.3(KRIT1):c.1600G>A (p.Glu534Lys)
NM_194454.3(KRIT1):c.1631A>G (p.Tyr544Cys)
NM_194454.3(KRIT1):c.1658C>T (p.Thr553Ile)
NM_194454.3(KRIT1):c.1681A>G (p.Ile561Val)
NM_194454.3(KRIT1):c.1687T>C (p.Tyr563His) rs2131326573
NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)
NM_194454.3(KRIT1):c.1717C>G (p.Gln573Glu)
NM_194454.3(KRIT1):c.1730+6T>G rs1554504391
NM_194454.3(KRIT1):c.1731-3C>G
NM_194454.3(KRIT1):c.1731-5T>C
NM_194454.3(KRIT1):c.1753G>A (p.Val585Ile)
NM_194454.3(KRIT1):c.1759G>A (p.Val587Ile) rs2131316594
NM_194454.3(KRIT1):c.1771A>G (p.Lys591Glu) rs2131316490
NM_194454.3(KRIT1):c.1775G>C (p.Ser592Thr)
NM_194454.3(KRIT1):c.1796A>G (p.Asn599Ser) rs954641073
NM_194454.3(KRIT1):c.1813T>C (p.Tyr605His)
NM_194454.3(KRIT1):c.1818+3A>C
NM_194454.3(KRIT1):c.182A>T (p.Asn61Ile) rs931432552
NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg) rs1563240863
NM_194454.3(KRIT1):c.1942G>A (p.Ala648Thr)
NM_194454.3(KRIT1):c.1943C>T (p.Ala648Val) rs2131308052
NM_194454.3(KRIT1):c.1970C>T (p.Pro657Leu)
NM_194454.3(KRIT1):c.1972G>A (p.Val658Met)
NM_194454.3(KRIT1):c.1974G>A (p.Val658=) rs780889522
NM_194454.3(KRIT1):c.1976A>G (p.Tyr659Cys)
NM_194454.3(KRIT1):c.1996G>C (p.Gly666Arg)
NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg) rs1563239999
NM_194454.3(KRIT1):c.2002C>A (p.His668Asn)
NM_194454.3(KRIT1):c.2014A>C (p.Met672Leu)
NM_194454.3(KRIT1):c.2025+3A>G
NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn)
NM_194454.3(KRIT1):c.2061G>A (p.Met687Ile)
NM_194454.3(KRIT1):c.2068T>A (p.Leu690Met)
NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs)
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1]) rs764839013
NM_194454.3(KRIT1):c.2116A>G (p.Met706Val)
NM_194454.3(KRIT1):c.215T>C (p.Val72Ala)
NM_194454.3(KRIT1):c.2165T>A (p.Leu722Ter) rs2131078017
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg) rs1799505965
NM_194454.3(KRIT1):c.244G>A (p.Ala82Thr)
NM_194454.3(KRIT1):c.29C>G (p.Ala10Gly) rs1057518241
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg) rs1057521140
NM_194454.3(KRIT1):c.386G>A (p.Cys129Tyr) rs764760437
NM_194454.3(KRIT1):c.405A>C (p.Leu135Phe)
NM_194454.3(KRIT1):c.421G>A (p.Val141Ile) rs2131675934
NM_194454.3(KRIT1):c.443A>G (p.His148Arg) rs2131675658
NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala) rs774330517
NM_194454.3(KRIT1):c.47G>C (p.Arg16Pro) rs1313893193
NM_194454.3(KRIT1):c.482A>G (p.Asp161Gly) rs1563309238
NM_194454.3(KRIT1):c.491T>C (p.Leu164Ser) rs1739707829
NM_194454.3(KRIT1):c.492A>T (p.Leu164Phe) rs2131664007
NM_194454.3(KRIT1):c.506C>G (p.Ala169Gly)
NM_194454.3(KRIT1):c.536G>A (p.Arg179Gln)
NM_194454.3(KRIT1):c.539C>A (p.Pro180His)
NM_194454.3(KRIT1):c.542CTC[1] (p.Pro182del)
NM_194454.3(KRIT1):c.625G>A (p.Gly209Ser)
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu) rs1563305909
NM_194454.3(KRIT1):c.647A>G (p.Lys216Arg)
NM_194454.3(KRIT1):c.673G>A (p.Ala225Thr)
NM_194454.3(KRIT1):c.689A>G (p.Tyr230Cys)
NM_194454.3(KRIT1):c.68T>G (p.Leu23Arg) rs1799792039
NM_194454.3(KRIT1):c.702T>C (p.Phe234=) rs1374778171
NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe) rs1563305220
NM_194454.3(KRIT1):c.721A>G (p.Thr241Ala)
NM_194454.3(KRIT1):c.727C>T (p.Arg243Trp) rs1387764812
NM_194454.3(KRIT1):c.728G>A (p.Arg243Gln)
NM_194454.3(KRIT1):c.729+5G>A rs1468613071
NM_194454.3(KRIT1):c.729G>C (p.Arg243=) rs749407592
NM_194454.3(KRIT1):c.730-12_730-11insGAACCTGGGAGGCGGAGGTTGCAGTGTGCTGAGATCGCACACTGCGA
NM_194454.3(KRIT1):c.74C>T (p.Ser25Phe)
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys) rs1798075445
NM_194454.3(KRIT1):c.845+10C>G rs372125478
NM_194454.3(KRIT1):c.846-8A>G
NM_194454.3(KRIT1):c.871C>T (p.Pro291Ser)
NM_194454.3(KRIT1):c.886G>A (p.Ala296Thr)
NM_194454.3(KRIT1):c.896G>A (p.Gly299Glu)
NM_194454.3(KRIT1):c.917G>A (p.Arg306His)
NM_194454.3(KRIT1):c.92A>T (p.Lys31Met) rs1367968203
NM_194454.3(KRIT1):c.938C>T (p.Ser313Leu)
NM_194454.3(KRIT1):c.947A>C (p.Gln316Pro)
NM_194454.3(KRIT1):c.947A>G (p.Gln316Arg)
NM_194454.3(KRIT1):c.950T>C (p.Leu317Ser)
NM_194454.3(KRIT1):c.989+7G>A rs1326157197
NM_194456.1(KRIT1):c.*1457T>C rs1789727080
NM_194456.1(KRIT1):c.*1555A>G rs1789715493
NM_194456.1(KRIT1):c.*1655T>G rs886062484

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.