ClinVar Miner

List of variants in gene KRIT1 studied for angiokeratoma corporis diffusum with arteriovenous fistulas

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.1980A>G (p.Val660=) rs11542682 0.10861
NM_194456.1(KRIT1):c.*1385A>G rs62467792 0.09950
NM_194456.1(KRIT1):c.*1444T>G rs10240962 0.02684
NM_194454.3(KRIT1):c.*272G>A rs28502064 0.02669
NM_194454.3(KRIT1):c.*320C>T rs112567410 0.02314
NM_194454.3(KRIT1):c.-356G>A rs117169559 0.00762
NM_194454.3(KRIT1):c.*141C>T rs117325194 0.00554
NM_194456.1(KRIT1):c.*1363T>G rs148980420 0.00355
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_194454.3(KRIT1):c.-43C>T rs193080208 0.00220
NM_194454.3(KRIT1):c.846-5dup rs373763254 0.00219
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met) rs41278788 0.00194
NM_194456.1(KRIT1):c.*1750C>T rs188612683 0.00188
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_194456.1(KRIT1):c.*1702A>G rs192818018 0.00163
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_194454.3(KRIT1):c.*137del rs543954194 0.00138
NM_194454.3(KRIT1):c.-421+190G>T rs570721041 0.00102
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00097
NM_194454.3(KRIT1):c.1146+8A>T rs182762651 0.00093
NM_194454.3(KRIT1):c.*451T>C rs886062486 0.00054
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val) rs147568834 0.00044
NM_194454.3(KRIT1):c.1412-9G>A rs199932606 0.00043
NM_194454.3(KRIT1):c.*46G>A rs369227523 0.00029
NM_194454.3(KRIT1):c.-2-7T>C rs550533414 0.00029
NM_194454.3(KRIT1):c.845+10C>T rs372125478 0.00026
NM_194454.3(KRIT1):c.*361C>G rs886062489 0.00024
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00023
NM_194454.3(KRIT1):c.*234G>A rs574668355 0.00016
NM_194454.3(KRIT1):c.*885A>T rs567470870 0.00014
NM_194454.3(KRIT1):c.*331G>A rs888560477 0.00012
NM_194456.1(KRIT1):c.*1357A>C rs1001963724 0.00012
NM_194454.3(KRIT1):c.1809T>C (p.His603=) rs149754162 0.00011
NM_194454.3(KRIT1):c.*182A>G rs1047129442 0.00010
NM_194454.3(KRIT1):c.*371_*372insG rs886062488 0.00009
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=) rs370766145 0.00009
NM_194454.3(KRIT1):c.*1205T>C rs183584214 0.00004
NM_194454.3(KRIT1):c.*648A>G rs1016578182 0.00004
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe) rs182763805 0.00004
NM_194454.3(KRIT1):c.*578A>G rs886062485 0.00003
NM_194454.3(KRIT1):c.846-15C>T rs527439925 0.00003
NM_194454.3(KRIT1):c.-174C>A rs886062491 0.00002
NM_194454.3(KRIT1):c.-291T>C rs983066692 0.00002
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys) rs370360812 0.00002
NM_194454.3(KRIT1):c.*57G>A rs529937203 0.00001
NM_194454.3(KRIT1):c.*77T>C rs1330882008 0.00001
NM_194454.3(KRIT1):c.-312A>G rs538102163 0.00001
NM_194454.3(KRIT1):c.-421+185C>A rs948520161 0.00001
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met) rs533696377 0.00001
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg) rs1195083508 0.00001
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=) rs369915828 0.00001
NM_194456.1(KRIT1):c.*1530T>C rs75182503 0.00001
NM_194454.3(KRIT1):c.*1029T>G rs972529527
NM_194454.3(KRIT1):c.*102C>T rs1789932075
NM_194454.3(KRIT1):c.*378dup rs34910226
NM_194454.3(KRIT1):c.*436C>T rs886062487
NM_194454.3(KRIT1):c.*450A>T rs1488573456
NM_194454.3(KRIT1):c.*62A>C rs886062490
NM_194454.3(KRIT1):c.*859C>T rs1789797274
NM_194454.3(KRIT1):c.*8G>A rs1789950973
NM_194454.3(KRIT1):c.*918C>T rs1789789119
NM_194454.3(KRIT1):c.-307A>T rs886062492
NM_194454.3(KRIT1):c.-394C>T rs886062493
NM_194454.3(KRIT1):c.-420-276C>G rs886062494
NM_194454.3(KRIT1):c.-421+240C>G rs886062495
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu) rs138431665
NM_194454.3(KRIT1):c.1974G>A (p.Val658=) rs780889522
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1]) rs764839013
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg) rs1799505965
NM_194454.3(KRIT1):c.451A>G (p.Thr151Ala) rs774330517
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys) rs1798075445
NM_194454.3(KRIT1):c.845+10C>G rs372125478
NM_194456.1(KRIT1):c.*1335T>C rs17164414
NM_194456.1(KRIT1):c.*1457T>C rs1789727080
NM_194456.1(KRIT1):c.*1555A>G rs1789715493
NM_194456.1(KRIT1):c.*1655T>G rs886062484

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