ClinVar Miner

List of variants reported as uncertain significance for angiokeratoma corporis diffusum with arteriovenous fistulas by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_019004.2(ANKIB1):c.-516_-511CCGGAG[4] rs886062498
NM_019004.2(ANKIB1):c.-524C>A
NM_019004.2(ANKIB1):c.-596C>T
NM_019004.2(ANKIB1):c.-603C>G
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.*331G>A
NM_194454.3(KRIT1):c.*450A>T
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.755A>G (p.Tyr252Cys)
NM_194456.1(KRIT1):c.*1357A>C
NM_194456.1(KRIT1):c.*1457T>C
NM_194456.1(KRIT1):c.*1555A>G
NM_194456.1(KRIT1):c.*1655T>G rs886062484
NM_194456.1(KRIT1):c.*361C>G rs886062489
NM_194456.1(KRIT1):c.*371_*372insG rs886062488
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.*62A>C rs886062490
NM_194456.1(KRIT1):c.*885A>T rs567470870
NM_194456.1(KRIT1):c.-174C>A rs886062491
NM_194456.1(KRIT1):c.-307A>T rs886062492
NM_194456.1(KRIT1):c.-394C>T rs886062493
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+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.2068T>C (p.Leu690=) rs370766145
NM_194456.1(KRIT1):c.451A>G (p.Thr151Ala) rs774330517

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.