ClinVar Miner

List of variants in gene KRIT1 reported as likely pathogenic

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
GRCh37/hg19 7q21.2(chr7:91830050-91830737)x1
NC_000007.13:g.(?_91851196)_(91852312_?)del
NC_000007.13:g.(?_91864697)_(91867093_?)dup
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter) rs780114710
NM_194454.3(KRIT1):c.1146+1G>C 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.1237del (p.Glu413fs) rs1563275284
NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs) rs1563266994
NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs) rs1563266256
NM_194454.3(KRIT1):c.1358dup (p.Ser454fs) rs1563266277
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter) rs1563266163
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu) rs1554513911
NM_194454.3(KRIT1):c.1406dup (p.Asn469fs) rs1563265838
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.1474dup (p.Ala492fs) rs1554512816
NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter) rs1563263545
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter) rs2131435199
NM_194454.3(KRIT1):c.1564-2A>T
NM_194454.3(KRIT1):c.1574del (p.Pro525fs) rs1584807148
NM_194454.3(KRIT1):c.1579G>A (p.Ala527Thr) rs374303823
NM_194454.3(KRIT1):c.1606A>T (p.Arg536Ter)
NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter) rs1563245596
NM_194454.3(KRIT1):c.1666del (p.Ser556fs) rs1563245191
NM_194454.3(KRIT1):c.1721_1730+5del
NM_194454.3(KRIT1):c.1730+3A>C rs1563244629
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.1818+1G>A rs2131315805
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.1959_1960insC (p.Lys654fs) rs2131307878
NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) rs1554539120
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.2134del (p.Thr712fs) rs2131087593
NM_194454.3(KRIT1):c.2139del (p.Lys713fs) rs1563211361
NM_194454.3(KRIT1):c.2140C>T (p.Gln714Ter)
NM_194454.3(KRIT1):c.2142+1G>C rs1790081665
NM_194454.3(KRIT1):c.2142+2dup
NM_194454.3(KRIT1):c.2143-1G>C rs1554489785
NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs) rs1563321624
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg) rs1057521140
NM_194454.3(KRIT1):c.363_369del (p.Lys122fs) rs1563309967
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) rs137853139
NM_194454.3(KRIT1):c.486-1G>T
NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter) rs1563307254
NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter) rs1563307239
NM_194454.3(KRIT1):c.587del (p.Ala196fs) rs1563306485
NM_194454.3(KRIT1):c.674del (p.Ala225fs) rs1563305648
NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter) rs1563305269
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_194454.3(KRIT1):c.729+5G>C rs1468613071
NM_194454.3(KRIT1):c.730-1G>C rs1554527922
NM_194454.3(KRIT1):c.730G>T (p.Val244Leu) rs1554527919
NM_194454.3(KRIT1):c.790_794del (p.Gln264fs) rs1563303222
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter) rs886039659
NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)
NM_194454.3(KRIT1):c.845+2T>A rs1563302930
NM_194454.3(KRIT1):c.896del (p.Gly299fs) rs1563301954
NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs) rs1563301527
NM_194454.3(KRIT1):c.972del (p.Ile325fs) rs1563301305
NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter)
NM_194454.3(KRIT1):c.990-1G>A rs1554518790
Single allele

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