ClinVar Miner

List of variants studied for Breast neoplasm by A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01796
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01180
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00895
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00318
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00051
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00017
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00008
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254 0.00002
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr) rs80358437 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 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.1324T>G (p.Ser442Ala) rs1057518641
NM_000059.4(BRCA2):c.1370A>G (p.Lys457Arg) rs771442299
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter) rs1057518637
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.5972C>T (p.Ala1991Val) rs80358829
NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs) rs1057518635
NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter) rs80358887
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.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.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.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.5006C>T (p.Ala1669Val) rs1057518640
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

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