ClinVar Miner

List of variants in gene KRIT1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 130
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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.*141C>T rs117325194 0.00554
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.2025+26A>G rs183850671 0.00225
NM_194454.3(KRIT1):c.846-5dup rs373763254 0.00219
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met) rs41278788 0.00194
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_194454.3(KRIT1):c.*137del rs543954194 0.00138
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00097
NM_194454.3(KRIT1):c.1782A>G (p.Ala594=) rs145605400 0.00054
NM_194454.3(KRIT1):c.-2-7T>C rs550533414 0.00029
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00023
NM_194454.3(KRIT1):c.510A>G (p.Gln170=) rs200684252 0.00018
NM_194454.3(KRIT1):c.845+9T>G rs140152251 0.00014
NM_194454.3(KRIT1):c.1264G>A (p.Val422Ile) rs139690878 0.00011
NM_194454.3(KRIT1):c.1752C>T (p.Ile584=) rs148836047 0.00011
NM_194454.3(KRIT1):c.1809T>C (p.His603=) rs149754162 0.00011
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) rs370766145 0.00009
NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser) rs202120786 0.00006
NM_194454.3(KRIT1):c.264A>G (p.Gly88=) rs201877439 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.-346G>A rs1002702257 0.00001
NM_194454.3(KRIT1):c.2026-12A>G rs1041438637 0.00001
NM_194454.3(KRIT1):c.262+142T>G rs1485549584 0.00001
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
NM_194454.3(KRIT1):c.*127G>A
NM_194454.3(KRIT1):c.1031del (p.Gly344fs) rs1563279045
NM_194454.3(KRIT1):c.1043C>T (p.Pro348Leu) rs1209027515
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter) rs780114710
NM_194454.3(KRIT1):c.1146+1G>A rs886039401
NM_194454.3(KRIT1):c.1146+1G>C rs886039401
NM_194454.3(KRIT1):c.1147-13C>G rs779465895
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter) rs1331502949
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.1237del (p.Glu413fs) rs1563275284
NM_194454.3(KRIT1):c.1255-1G>A rs1563267100
NM_194454.3(KRIT1):c.1255-1_1256del rs1554514380
NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs) rs1563266994
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs) rs1563266658
NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs) rs1563266256
NM_194454.3(KRIT1):c.1358dup (p.Ser454fs) rs1563266277
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.1372C>T (p.Gln458Ter) rs1563266163
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter) rs1563265959
NM_194454.3(KRIT1):c.1406dup (p.Asn469fs) rs1563265838
NM_194454.3(KRIT1):c.1411+20_1411+24del rs886038758
NM_194454.3(KRIT1):c.1412-2A>C rs1563264113
NM_194454.3(KRIT1):c.141_145del (p.Arg49fs) rs770594592
NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs) rs1563264033
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1470dup (p.Leu491fs) rs1563263604
NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter) rs1563263545
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.1563G>A (p.Gln521=) rs1563263055
NM_194454.3(KRIT1):c.1564-8_1564-4del
NM_194454.3(KRIT1):c.1572C>A (p.Asp524Glu)
NM_194454.3(KRIT1):c.1593_1594del (p.Leu531_Phe532insTer)
NM_194454.3(KRIT1):c.1606A>T (p.Arg536Ter)
NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter) rs1563245596
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs) rs1563245290
NM_194454.3(KRIT1):c.1666del (p.Ser556fs) rs1563245191
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+3A>C rs1563244629
NM_194454.3(KRIT1):c.1730+4_1730+7del rs1563244596
NM_194454.3(KRIT1):c.1730+5G>A rs1563244618
NM_194454.3(KRIT1):c.1731-3C>A rs1563243075
NM_194454.3(KRIT1):c.1739del (p.Asn580fs) rs1563243016
NM_194454.3(KRIT1):c.1754dup (p.Pro586fs) rs1563242899
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter) rs1563242500
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter) rs1554503116
NM_194454.3(KRIT1):c.1885T>C (p.Cys629Arg) rs1563240863
NM_194454.3(KRIT1):c.1897_1903del (p.Pro633fs) rs1563240821
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter) rs1563240592
NM_194454.3(KRIT1):c.1972G>A (p.Val658Met)
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194454.3(KRIT1):c.2000T>G (p.Leu667Arg) rs1563239999
NM_194454.3(KRIT1):c.2025+2T>C rs1563239833
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_194454.3(KRIT1):c.2083dup (p.Thr695fs) rs1563211839
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter) rs1563211627
NM_194454.3(KRIT1):c.2116A>G (p.Met706Val)
NM_194454.3(KRIT1):c.2139del (p.Lys713fs) rs1563211361
NM_194454.3(KRIT1):c.2142+2dup
NM_194454.3(KRIT1):c.2143-1G>C rs1554489785
NM_194454.3(KRIT1):c.2151C>T (p.Leu717=)
NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs) rs1563321624
NM_194454.3(KRIT1):c.262+133A>G
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg) rs1057521140
NM_194454.3(KRIT1):c.355+29_355+30del rs574142144
NM_194454.3(KRIT1):c.363_369del (p.Lys122fs) rs1563309967
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter) rs866982998
NM_194454.3(KRIT1):c.486-37C>G rs200000378
NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter) rs1563307254
NM_194454.3(KRIT1):c.525A>C (p.Pro175=)
NM_194454.3(KRIT1):c.549T>G (p.Leu183=)
NM_194454.3(KRIT1):c.587del (p.Ala196fs) rs1563306485
NM_194454.3(KRIT1):c.646A>G (p.Lys216Glu) rs1563305909
NM_194454.3(KRIT1):c.674del (p.Ala225fs) rs1563305648
NM_194454.3(KRIT1):c.679dup (p.Thr227fs) rs1563305588
NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter) rs1563305269
NM_194454.3(KRIT1):c.712C>T (p.Leu238Phe) rs1563305220
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_194454.3(KRIT1):c.721A>G (p.Thr241Ala)
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_194454.3(KRIT1):c.730-1G>A rs1554527922
NM_194454.3(KRIT1):c.730-1G>C rs1554527922
NM_194454.3(KRIT1):c.790_794del (p.Gln264fs) rs1563303222
NM_194454.3(KRIT1):c.829_832dup (p.Val278fs)
NM_194454.3(KRIT1):c.842del (p.Asp281fs) rs1563302951
NM_194454.3(KRIT1):c.845+1G>A rs1563302941
NM_194454.3(KRIT1):c.845+2T>A rs1563302930
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.947_948insAC (p.Leu317fs) rs1563301527
NM_194454.3(KRIT1):c.950T>C (p.Leu317Ser)
NM_194454.3(KRIT1):c.972del (p.Ile325fs) rs1563301305

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