ClinVar Miner

List of variants studied for angiokeratoma corporis diffusum with arteriovenous fistulas

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_019004.2(ANKIB1):c.-516_-511CCGGAG[4] rs886062498
NM_019004.2(ANKIB1):c.-524C>A
NM_019004.2(ANKIB1):c.-553G>A rs58075588
NM_019004.2(ANKIB1):c.-593G>A rs553392669
NM_019004.2(ANKIB1):c.-596C>T
NM_019004.2(ANKIB1):c.-603C>G
NM_019004.2(ANKIB1):c.-605T>C rs143215997
NM_019004.2(ANKIB1):c.-614C>T rs28365965
NM_194454.3(KRIT1):c.*1029T>G
NM_194454.3(KRIT1):c.*102C>T
NM_194454.3(KRIT1):c.*1205T>C
NM_194454.3(KRIT1):c.*182A>G
NM_194454.3(KRIT1):c.*234G>A
NM_194454.3(KRIT1):c.*331G>A
NM_194454.3(KRIT1):c.*450A>T
NM_194454.3(KRIT1):c.*46G>A
NM_194454.3(KRIT1):c.*648A>G
NM_194454.3(KRIT1):c.*77T>C
NM_194454.3(KRIT1):c.*859C>T
NM_194454.3(KRIT1):c.*8G>A
NM_194454.3(KRIT1):c.*918C>T
NM_194454.3(KRIT1):c.-291T>C
NM_194454.3(KRIT1):c.-421+185C>A
NM_194454.3(KRIT1):c.1148A>G (p.His383Arg)
NM_194454.3(KRIT1):c.136A>G (p.Lys46Glu)
NM_194454.3(KRIT1):c.1974G>A (p.Val658=)
NM_194454.3(KRIT1):c.2074GATACT[1] (p.692DT[1]) rs764839013
NM_194454.3(KRIT1):c.230A>G (p.Lys77Arg)
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)
NM_194454.3(KRIT1):c.755A>G (p.Tyr252Cys)
NM_194454.3(KRIT1):c.845+10C>G
NM_194454.3(KRIT1):c.846-15C>T
NM_194456.1(KRIT1):c.*132T>G rs572414111
NM_194456.1(KRIT1):c.*1335T>C rs17164414
NM_194456.1(KRIT1):c.*1357A>C
NM_194456.1(KRIT1):c.*1363T>G rs148980420
NM_194456.1(KRIT1):c.*137del rs543954194
NM_194456.1(KRIT1):c.*1385A>G rs62467792
NM_194456.1(KRIT1):c.*141C>T rs117325194
NM_194456.1(KRIT1):c.*1444T>G rs10240962
NM_194456.1(KRIT1):c.*1457T>C
NM_194456.1(KRIT1):c.*1530T>C
NM_194456.1(KRIT1):c.*1555A>G
NM_194456.1(KRIT1):c.*1655T>G rs886062484
NM_194456.1(KRIT1):c.*1702A>G rs192818018
NM_194456.1(KRIT1):c.*1750C>T rs188612683
NM_194456.1(KRIT1):c.*272G>A rs28502064
NM_194456.1(KRIT1):c.*320C>T rs112567410
NM_194456.1(KRIT1):c.*361C>G rs886062489
NM_194456.1(KRIT1):c.*371_*372insG rs886062488
NM_194456.1(KRIT1):c.*378dup rs34910226
NM_194456.1(KRIT1):c.*436C>T rs886062487
NM_194456.1(KRIT1):c.*451T>C rs886062486
NM_194456.1(KRIT1):c.*578A>G rs886062485
NM_194456.1(KRIT1):c.*57G>A rs529937203
NM_194456.1(KRIT1):c.*62A>C rs886062490
NM_194456.1(KRIT1):c.*885A>T rs567470870
NM_194456.1(KRIT1):c.-174C>A rs886062491
NM_194456.1(KRIT1):c.-2-7T>C rs550533414
NM_194456.1(KRIT1):c.-307A>T rs886062492
NM_194456.1(KRIT1):c.-312A>G rs538102163
NM_194456.1(KRIT1):c.-356G>A rs117169559
NM_194456.1(KRIT1):c.-394C>T rs886062493
NM_194456.1(KRIT1):c.-43C>T rs193080208
NM_194456.1(KRIT1):c.-441C>G rs886062494
NM_194456.1(KRIT1):c.-544C>G rs886062495
NM_194456.1(KRIT1):c.-589-5G>T rs570721041
NM_194456.1(KRIT1):c.-590+12G>T rs571563061
NM_194456.1(KRIT1):c.-590+8C>T rs886062496
NM_194456.1(KRIT1):c.-591C>T rs886062497
NM_194456.1(KRIT1):c.-628T>A rs745344627
NM_194456.1(KRIT1):c.-632A>C
NM_194456.1(KRIT1):c.-647T>C
NM_194456.1(KRIT1):c.1063C>T (p.Leu355Phe) rs182763805
NM_194456.1(KRIT1):c.1095A>G (p.Gly365=) rs143710815
NM_194456.1(KRIT1):c.1139C>T (p.Thr380Met) rs533696377
NM_194456.1(KRIT1):c.1140G>A (p.Thr380=) rs140009885
NM_194456.1(KRIT1):c.1146+8A>T rs182762651
NM_194456.1(KRIT1):c.1245T>G (p.Ile415Met) rs41278788
NM_194456.1(KRIT1):c.1326C>G (p.Thr442=) rs150912644
NM_194456.1(KRIT1):c.1412-9G>A rs199932606
NM_194456.1(KRIT1):c.1809T>C (p.His603=) rs149754162
NM_194456.1(KRIT1):c.1938A>G (p.Thr646=) rs369915828
NM_194456.1(KRIT1):c.1980A>G (p.Val660=) rs11542682
NM_194456.1(KRIT1):c.2068T>C (p.Leu690=) rs370766145
NM_194456.1(KRIT1):c.302G>T (p.Gly101Val) rs147568834
NM_194456.1(KRIT1):c.451A>G (p.Thr151Ala) rs774330517
NM_194456.1(KRIT1):c.77G>A (p.Arg26Gln) rs34358665
NM_194456.1(KRIT1):c.845+10C>T rs372125478
NM_194456.1(KRIT1):c.846-5dup rs373763254

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