ClinVar Miner

List of variants reported as pathogenic for keratoacanthoma by Yale Center for Mendelian Genomics, Yale University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_017617.5(NOTCH1):c.2272G>T (p.Glu758Ter) rs1843215220
NM_017617.5(NOTCH1):c.3463C>T (p.Gln1155Ter) rs2133346299
NM_024408.4(NOTCH2):c.1211C>T (p.Pro404Leu) rs2101145406
NM_024408.4(NOTCH2):c.1243G>A (p.Asp415Asn) rs2101145278

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