ClinVar Miner

List of variants in gene KRIT1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.1980A>G (p.Val660=) rs11542682 0.10861
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.1041T>C (p.Asn347=) rs373275660 0.00001
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala) rs1230178894 0.00001
NM_194454.3(KRIT1):c.262+68A>G rs1554536465 0.00001
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg) rs765542241 0.00001
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs) rs2131454847
NM_194454.3(KRIT1):c.1308G>A (p.Leu436=) rs1190790030
NM_194454.3(KRIT1):c.1315G>T (p.Gly439Ter) rs1584881660
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter) rs2131454006
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1775del (p.Ser592fs) rs1563242833
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1874_1881del (p.Met624_Phe625insTer) rs2131308944
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter) rs1554503009
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs) rs1554502927

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