ClinVar Miner

List of variants studied for breast cancer by OMIM

Included ClinVar conditions (61):
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Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg) rs121908690 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NC_000008.11:g.52623770_52685461del
NM_000051.4(ATM):c.8671+2_8671+3insTA rs2137087134
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
TSG101, VAL-ALA, 1162T-C
nsv1067861

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