ClinVar Miner

List of variants in gene KRIT1 reported as uncertain significance for not provided

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln) rs138763545 0.00264
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.77G>A (p.Arg26Gln) rs34358665 0.00097
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.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.1369A>G (p.Thr457Ala) rs1230178894 0.00001
NM_194454.3(KRIT1):c.2053T>C (p.Cys685Arg) rs1051131327 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.1036T>A (p.Cys346Ser) rs1131691991
NM_194454.3(KRIT1):c.1043C>T (p.Pro348Leu) rs1209027515
NM_194454.3(KRIT1):c.1327A>T (p.Thr443Ser)
NM_194454.3(KRIT1):c.1411+22T>A
NM_194454.3(KRIT1):c.1563G>A (p.Gln521=) rs1563263055
NM_194454.3(KRIT1):c.1731-5T>C
NM_194454.3(KRIT1):c.1759G>A (p.Val587Ile) rs2131316594
NM_194454.3(KRIT1):c.182A>T (p.Asn61Ile) rs931432552
NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg) rs1563240863
NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg) rs1563239999
NM_194454.3(KRIT1):c.2068T>A (p.Leu690Met)
NM_194454.3(KRIT1):c.2068_2083del (p.Gly691fs)
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.539C>A (p.Pro180His)
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu) rs1563305909
NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe) rs1563305220
NM_194454.3(KRIT1):c.727C>T (p.Arg243Trp) rs1387764812
NM_194454.3(KRIT1):c.729+5G>A rs1468613071
NM_194454.3(KRIT1):c.846-8A>G
NM_194454.3(KRIT1):c.896G>A (p.Gly299Glu)
NM_194454.3(KRIT1):c.92A>T (p.Lys31Met) rs1367968203

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