ClinVar Miner

List of variants in gene KRIT1 reported by GeneDx

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Gene type:
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Total variants: 88
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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.2044A>C (p.Lys682Gln) rs138763545 0.00264
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_194454.3(KRIT1):c.1819-12G>C rs199748245 0.00097
NM_194454.3(KRIT1):c.1412-9G>A rs199932606 0.00043
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His) rs143644029 0.00012
NM_194454.3(KRIT1):c.499C>T (p.Arg167Cys) rs35350895 0.00003
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala) rs1230178894 0.00001
NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg) rs1051131327 0.00001
NM_194454.3(KRIT1):c.2136A>G (p.Thr712=) rs745397726 0.00001
NM_194454.3(KRIT1):c.413T>C (p.Ile138Thr) rs1172939308 0.00001
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
NM_194454.3(KRIT1):c.1036T>A (p.Cys346Ser) rs1131691991
NM_194454.3(KRIT1):c.1146+1G>A 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.1192_1204del (p.Glu398fs) rs886041557
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1255-296del rs568078150
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1327A>T (p.Thr443Ser)
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.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter) rs1554513911
NM_194454.3(KRIT1):c.1411+181G>A rs112410984
NM_194454.3(KRIT1):c.1412-2A>C rs1563264113
NM_194454.3(KRIT1):c.141_145del (p.Arg49fs) rs770594592
NM_194454.3(KRIT1):c.1474dup (p.Ala492fs) rs1554512816
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+10G>A rs1554512600
NM_194454.3(KRIT1):c.1563+1G>A rs549591728
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.1685dup (p.Tyr563fs) rs886041572
NM_194454.3(KRIT1):c.1730+3A>C rs1563244629
NM_194454.3(KRIT1):c.1731-2A>G rs886039571
NM_194454.3(KRIT1):c.1731-5T>C
NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs) rs1584800138
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.1807del (p.His603fs) rs886039572
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.1905T>A (p.Tyr635Ter) rs140072597
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs) rs1064793348
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.2068T>A (p.Leu690Met)
NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs)
NM_194454.3(KRIT1):c.2142+2dup
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
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.397dup (p.Tyr133fs) rs757560062
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.486-2A>G rs965713946
NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter) rs1563307239
NM_194454.3(KRIT1):c.539C>A (p.Pro180His)
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu) rs137853140
NM_194454.3(KRIT1):c.690C>G (p.Tyr230Ter) rs1554528662
NM_194454.3(KRIT1):c.699del (p.Leu233fs) rs2131660732
NM_194454.3(KRIT1):c.727C>T (p.Arg243Trp) rs1387764812
NM_194454.3(KRIT1):c.729+5G>A rs1468613071
NM_194454.3(KRIT1):c.730-93A>G rs73407587
NM_194454.3(KRIT1):c.730G>T (p.Val244Leu) rs1554527919
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter) rs886039659
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.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.999del (p.Val334fs) rs1554518750

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