ClinVar Miner

List of variants reported as pathogenic for breast carcinoma by Department of Pediatrics, Memorial Sloan Kettering Cancer Center

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter) rs80358892
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter) rs80358936
NM_007294.4(BRCA1):c.3016del (p.His1006fs) rs2154347100
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) rs929474806

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