ClinVar Miner

List of variants reported as pathogenic for breast disorder by A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter) rs1057518637
NM_000059.4(BRCA2):c.2701del (p.Ala902fs) rs397507637
NM_000059.4(BRCA2):c.4740_4741dup (p.Glu1581fs) rs864622401
NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter) rs1057518638
NM_000059.4(BRCA2):c.5644_5647del (p.Ser1882fs) rs1555284326
NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs) rs1057518635
NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter) rs397507967
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter) rs80359222
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter) rs398122630
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4287C>A (p.Tyr1429Ter) rs397509160
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs) rs80357760
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs) rs1057518636
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs) rs886040308

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