ClinVar Miner

List of variants in gene KRIT1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
NM_194454.3(KRIT1):c.1146+1G>A rs886039401
NM_194454.3(KRIT1):c.1146+1G>T rs886039401
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.1267C>T (p.Arg423Ter) rs886039402
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.1412-2A>C rs1563264113
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.1685dup (p.Tyr563fs) rs886041572
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.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1823_1824del (p.Leu608fs) rs1554503202
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.268C>T (p.Arg90Ter) rs1563313372
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs) rs757560062
NM_194454.3(KRIT1):c.486-2A>G rs965713946
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.802C>T (p.Gln268Ter) rs886039659
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter) rs764960797
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

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