ClinVar Miner

List of variants in gene KRIT1 reported as uncertain significance for angiokeratoma corporis diffusum with arteriovenous fistulas

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 38
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HGVS dbSNP
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.2068T>C (p.Leu690=) rs370766145
NM_194456.1(KRIT1):c.451A>G (p.Thr151Ala) rs774330517

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