ClinVar Miner

List of variants in gene combination KRIT1, LOC113748416 reported as uncertain significance 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: 5
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HGVS dbSNP
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

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