ClinVar Miner

List of variants in gene KRIT1, LOC113748416 studied for angiokeratoma corporis diffusum with arteriovenous fistulas

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.-538C>T rs886062497 0.00048
NM_194456.1(KRIT1):c.-647T>C rs370781912 0.00034
NM_194456.1(KRIT1):c.-628T>A rs745344627 0.00025
NM_194454.3(KRIT1):c.-529C>T rs886062496 0.00006
NM_194454.3(KRIT1):c.-525G>T rs571563061
NM_194456.1(KRIT1):c.-632A>C rs1800915586

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