ClinVar Miner

List of variants reported as pathogenic for epithelial neoplasm by Department of Human Genetics, Hannover Medical School

Included ClinVar conditions (286):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter) rs2080118610
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_002878.4(RAD51D):c.790_796dup (p.Arg266fs) rs2142411968
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283

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