ClinVar Miner

List of variants in gene KRIT1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.989+63C>G rs2027950 0.57036
NM_194454.3(KRIT1):c.1818+146A>G rs74603220 0.10873
NM_194454.3(KRIT1):c.1980A>G (p.Val660=) rs11542682 0.10861
NM_194454.3(KRIT1):c.729+240G>T rs73407588 0.03646
NM_194454.3(KRIT1):c.*272G>A rs28502064 0.02669
NM_194454.3(KRIT1):c.486-193T>C rs75654928 0.01703
NM_194454.3(KRIT1):c.*141C>T rs117325194 0.00554
NM_194456.1(KRIT1):c.*1363T>G rs148980420 0.00355
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln) rs138763545 0.00264
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
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.1245T>G (p.Ile415Met) rs41278788 0.00194
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_194454.3(KRIT1):c.*137del rs543954194 0.00138
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00097
NM_194454.3(KRIT1):c.1782A>G (p.Ala594=) rs145605400 0.00054
NM_194454.3(KRIT1):c.845+10C>T rs372125478 0.00026
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) rs370766145 0.00016
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His) rs143644029 0.00012
NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile) rs139690878 0.00011
NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser) rs202120786 0.00006
NM_194454.3(KRIT1):c.264A>G (p.Gly88=) rs201877439 0.00006
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala) rs140396626 0.00006
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.-346G>A rs1002702257 0.00001
NM_194454.3(KRIT1):c.1041T>C (p.Asn347=) rs373275660 0.00001
NM_194454.3(KRIT1):c.1306T>C (p.Leu436=) rs998452517 0.00001
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala) rs1230178894 0.00001
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=) rs369915828 0.00001
NM_194454.3(KRIT1):c.2026-12A>G rs1041438637 0.00001
NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg) rs1051131327 0.00001
NM_194454.3(KRIT1):c.2160A>G (p.Lys720=) rs1178875536 0.00001
NM_194454.3(KRIT1):c.262+142T>G rs1485549584 0.00001
NM_194454.3(KRIT1):c.276A>G (p.Val92=) rs573853526 0.00001
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr) rs1172939308 0.00001
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg) rs765542241 0.00001
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
GRCh37/hg19 7q21.2(chr7:91809746-91836087)x1
GRCh37/hg19 7q21.2(chr7:91830050-91830737)x1
NM_194454.3(KRIT1):c.1031del (p.Gly344fs) rs1563279045
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.1084del (p.Ala362fs) rs1554518541
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs) rs1796247872
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter) rs780114710
NM_194454.3(KRIT1):c.1146+1G>A rs886039401
NM_194454.3(KRIT1):c.1146+1G>C rs886039401
NM_194454.3(KRIT1):c.1146+1G>T rs886039401
NM_194454.3(KRIT1):c.1146+3_1146+4del rs1554518369
NM_194454.3(KRIT1):c.1146+4_1146+8del rs2131525308
NM_194454.3(KRIT1):c.1151_1152insG (p.Ile384fs) rs1796090545
NM_194454.3(KRIT1):c.1166del (p.Gly389fs) rs2131511467
NM_194454.3(KRIT1):c.1192_1204del (p.Glu398fs) rs886041557
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1237_1240del (p.Glu413fs) rs1563275256
NM_194454.3(KRIT1):c.1237del (p.Glu413fs) rs1563275284
NM_194454.3(KRIT1):c.1255-1G>A rs1563267100
NM_194454.3(KRIT1):c.1255-296del rs568078150
NM_194454.3(KRIT1):c.1255-2A>G rs1795437460
NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs) rs1563266994
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1287del (p.Ser430fs) rs2131454847
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs) rs2131454847
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs) rs1563266658
NM_194454.3(KRIT1):c.1308G>A (p.Leu436=) rs1190790030
NM_194454.3(KRIT1):c.1327A>T (p.Thr443Ser)
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter) rs2131454006
NM_194454.3(KRIT1):c.1355_1356del (p.Arg452fs) rs886041415
NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs) rs1563266256
NM_194454.3(KRIT1):c.1358dup (p.Ser454fs) rs1563266277
NM_194454.3(KRIT1):c.1359C>T (p.Leu453=) rs1584881048
NM_194454.3(KRIT1):c.1360_1363del (p.Ser454fs) rs1180476377
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs) rs1180476377
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter) rs1563266163
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter) rs1563265959
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter) rs1554513911
NM_194454.3(KRIT1):c.1406dup (p.Asn469fs) rs1563265838
NM_194454.3(KRIT1):c.1411+181G>A rs112410984
NM_194454.3(KRIT1):c.1411+22T>A
NM_194454.3(KRIT1):c.1412-1G>C rs1554513070
NM_194454.3(KRIT1):c.1412-2A>C rs1563264113
NM_194454.3(KRIT1):c.141_145del (p.Arg49fs) rs770594592
NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs) rs1563264033
NM_194454.3(KRIT1):c.1425A>G (p.Lys475=) rs1017236415
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1470dup (p.Leu491fs) rs1563263604
NM_194454.3(KRIT1):c.1474dup (p.Ala492fs) rs1554512816
NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter) rs1563263545
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter) rs1563263366
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs) rs886041209
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs) rs886039400
NM_194454.3(KRIT1):c.1563+1G>A rs549591728
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=) rs1563263055
NM_194454.3(KRIT1):c.1564-1G>A
NM_194454.3(KRIT1):c.1564-316A>T rs10271533
NM_194454.3(KRIT1):c.1579G>A (p.Ala527Thr) rs374303823
NM_194454.3(KRIT1):c.1608_1633del (p.Arg536fs) rs1793597181
NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter) rs1563245596
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs) rs1563245290
NM_194454.3(KRIT1):c.1666del (p.Ser556fs) rs1563245191
NM_194454.3(KRIT1):c.1685dup (p.Tyr563fs) rs886041572
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer) rs1554504484
NM_194454.3(KRIT1):c.1710del (p.Lys570fs) rs1563244807
NM_194454.3(KRIT1):c.1730+3A>C rs1563244629
NM_194454.3(KRIT1):c.1730+4_1730+7del rs1563244596
NM_194454.3(KRIT1):c.1730+5G>A rs1563244618
NM_194454.3(KRIT1):c.1731-2A>G rs886039571
NM_194454.3(KRIT1):c.1731-3C>A rs1563243075
NM_194454.3(KRIT1):c.1731-5T>C
NM_194454.3(KRIT1):c.1739del (p.Asn580fs) rs1563243016
NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs) rs1584800138
NM_194454.3(KRIT1):c.1754dup (p.Pro586fs) rs1563242899
NM_194454.3(KRIT1):c.1759G>A (p.Val587Ile) rs2131316594
NM_194454.3(KRIT1):c.1762dup (p.Thr588fs) rs1554503705
NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter) rs1554503702
NM_194454.3(KRIT1):c.1775del (p.Ser592fs) rs1563242833
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter) rs1563242500
NM_194454.3(KRIT1):c.1823_1824del (p.Leu608fs) rs1554503202
NM_194454.3(KRIT1):c.182A>T (p.Asn61Ile) rs931432552
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter) rs1554503116
NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer) rs2131308944
NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg) rs1563240863
NM_194454.3(KRIT1):c.1897_1903del (p.Pro633fs) rs1563240821
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter) rs140072597
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter) rs1563240592
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs) rs1064793348
NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)
NM_194454.3(KRIT1):c.1967del (p.Ile656fs)
NM_194454.3(KRIT1):c.1970dup (p.Val658fs) rs1554502838
NM_194454.3(KRIT1):c.1981G>T (p.Gly661Ter)
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg) rs1563239999
NM_194454.3(KRIT1):c.2007C>T (p.Leu669=) rs1584794752
NM_194454.3(KRIT1):c.2025+2T>C rs1563239833
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_194454.3(KRIT1):c.2068T>A (p.Leu690Met)
NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs)
NM_194454.3(KRIT1):c.2083dup (p.Thr695fs) rs1563211839
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter) rs1563211627
NM_194454.3(KRIT1):c.2139del (p.Lys713fs) rs1563211361
NM_194454.3(KRIT1):c.2142+2dup
NM_194454.3(KRIT1):c.2143-1G>C rs1554489785
NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs) rs1563321624
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg) rs1057521140
NM_194454.3(KRIT1):c.363_369del (p.Lys122fs) rs1563309967
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs) rs757560062
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter) rs866982998
NM_194454.3(KRIT1):c.477C>T (p.Ala159=) rs1584988756
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.485+65G>C rs17164451
NM_194454.3(KRIT1):c.486-1G>A rs1554529341
NM_194454.3(KRIT1):c.486-2A>G rs965713946
NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter) rs1563307254
NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter) rs1563307239
NM_194454.3(KRIT1):c.539C>A (p.Pro180His)
NM_194454.3(KRIT1):c.587del (p.Ala196fs) rs1563306485
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu) rs137853140
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu) rs1563305909
NM_194454.3(KRIT1):c.674del (p.Ala225fs) rs1563305648
NM_194454.3(KRIT1):c.679dup (p.Thr227fs) rs1563305588
NM_194454.3(KRIT1):c.690C>G (p.Tyr230Ter) rs1554528662
NM_194454.3(KRIT1):c.699del (p.Leu233fs) rs2131660732
NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter) rs1563305269
NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe) rs1563305220
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_194454.3(KRIT1):c.727C>T (p.Arg243Trp) rs1387764812
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_194454.3(KRIT1):c.729+5G>A rs1468613071
NM_194454.3(KRIT1):c.730-1G>A rs1554527922
NM_194454.3(KRIT1):c.730-1G>C rs1554527922
NM_194454.3(KRIT1):c.730-93A>G rs73407587
NM_194454.3(KRIT1):c.730G>T (p.Val244Leu) rs1554527919
NM_194454.3(KRIT1):c.790_794del (p.Gln264fs) rs1563303222
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter) rs886039659
NM_194454.3(KRIT1):c.842del (p.Asp281fs) rs1563302951
NM_194454.3(KRIT1):c.845+1G>A rs1563302941
NM_194454.3(KRIT1):c.845+2T>A rs1563302930
NM_194454.3(KRIT1):c.846-8A>G
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter) rs764960797
NM_194454.3(KRIT1):c.896G>A (p.Gly299Glu)
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_194454.3(KRIT1):c.907_913del (p.Leu303fs) rs1057517752
NM_194454.3(KRIT1):c.92A>T (p.Lys31Met) rs1367968203
NM_194454.3(KRIT1):c.937dup (p.Ser313fs) rs1554527032
NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs) rs1563301527
NM_194454.3(KRIT1):c.972del (p.Ile325fs) rs1563301305
NM_194454.3(KRIT1):c.999del (p.Val334fs) rs1554518750
Single allele

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