ClinVar Miner

List of variants studied for Angiokeratoma corporis diffusum with arteriovenous fistulas

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
Download table as spreadsheet
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_019004.2(ANKIB1):c.-614C>T rs28365965 0.07914
NM_019004.2(ANKIB1):c.-553G>A rs58075588 0.03112
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_019004.2(ANKIB1):c.-605T>C rs143215997 0.00775
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_019004.2(ANKIB1):c.-593G>A rs553392669 0.00255
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.-538C>T rs886062497 0.00048
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val) rs147568834 0.00044
NM_194454.3(KRIT1):c.1412-9G>A rs199932606 0.00043
NM_194456.1(KRIT1):c.-647T>C rs370781912 0.00034
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_194456.1(KRIT1):c.-628T>A rs745344627 0.00025
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_019004.2(ANKIB1):c.-596C>T rs1437344467 0.00008
NM_194454.3(KRIT1):c.-529C>T rs886062496 0.00006
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_019004.2(ANKIB1):c.-516CCGGAG[4] rs886062498
NM_019004.2(ANKIB1):c.-524C>A rs950572905
NM_019004.2(ANKIB1):c.-603C>G rs932427766
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.-525G>T rs571563061
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
NM_194456.1(KRIT1):c.-632A>C rs1800915586

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.