ClinVar Miner

List of variants in gene KRIT1 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.2026-12A>G rs1041438637 0.00001
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
GRCh37/hg19 7q21.2(chr7:91809746-91836087)x1
NM_194454.3(KRIT1):c.1031del (p.Gly344fs) rs1563279045
NM_194454.3(KRIT1):c.1084del (p.Ala362fs) rs1554518541
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs) rs1796247872
NM_194454.3(KRIT1):c.1146+1G>A rs886039401
NM_194454.3(KRIT1):c.1146+1G>T rs886039401
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.1255-1G>A rs1563267100
NM_194454.3(KRIT1):c.1255-2A>G rs1795437460
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.1333C>T (p.Gln445Ter) rs2131454006
NM_194454.3(KRIT1):c.1355_1356del (p.Arg452fs) rs886041415
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.1391G>A (p.Trp464Ter) rs1563265959
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter) rs1554513911
NM_194454.3(KRIT1):c.1412-1G>C rs1554513070
NM_194454.3(KRIT1):c.1412-2A>C rs1563264113
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
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.1564-1G>A
NM_194454.3(KRIT1):c.1608_1633del (p.Arg536fs) rs1793597181
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs) rs1563245290
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+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.1742_1748dup (p.Ile584fs) rs1584800138
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.1849G>T (p.Glu617Ter) rs1554503116
NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer) rs2131308944
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter) rs140072597
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs) rs1064793348
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.2043del (p.Lys682fs) rs1563212150
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter) rs1563211627
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs) rs757560062
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter) rs866982998
NM_194454.3(KRIT1):c.486-1G>A rs1554529341
NM_194454.3(KRIT1):c.486-2A>G rs965713946
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu) rs137853140
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.715C>T (p.Gln239Ter) rs886043300
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_194454.3(KRIT1):c.730-1G>A rs1554527922
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.880C>T (p.Arg294Ter) rs764960797
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.937dup (p.Ser313fs) rs1554527032
NM_194454.3(KRIT1):c.999del (p.Val334fs) rs1554518750

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.