ClinVar Miner

List of variants reported as pathogenic for Breast neoplasm

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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00017
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
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_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309 0.00001
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 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.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772 0.00001
NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.8633_8755del
NM_000059.4(BRCA2):c.-5_11del (p.Met1fs) rs1555280073
NM_000059.4(BRCA2):c.1190_1197del (p.Gln397fs) rs886037797
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.161del (p.Asn54fs) rs878853297
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) rs587782780
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2175dup (p.Val726fs) rs276174819
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter) rs1057518637
NM_000059.4(BRCA2):c.2595del (p.Glu866fs) rs483353111
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) rs80358529
NM_000059.4(BRCA2):c.2754del (p.Asn918fs) rs1555282830
NM_000059.4(BRCA2):c.2828_2831del (p.Ile943fs) rs397507643
NM_000059.4(BRCA2):c.2845del (p.Tyr949fs) rs397507644
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter) rs397507649
NM_000059.4(BRCA2):c.3001del (p.Ser1001fs) rs886037801
NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter) rs1555283169
NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs) rs886037803
NM_000059.4(BRCA2):c.4041_4042del (p.Cys1348fs) rs886037800
NM_000059.4(BRCA2):c.4148_4149del (p.Asp1383fs) rs886037799
NM_000059.4(BRCA2):c.4151del (p.Leu1384fs) rs397507710
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.5206C>T (p.Gln1736Ter) rs886037802
NM_000059.4(BRCA2):c.5879del (p.Cys1960fs) rs1555284442
NM_000059.4(BRCA2):c.6014_6017del (p.Asp2005fs) rs1057518635
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter) rs397507828
NM_000059.4(BRCA2):c.613_614del (p.Ser205fs) rs1566219362
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6532dup (p.His2178fs) rs886037798
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.732_733del (p.Asp244fs) rs1408096224
NM_000059.4(BRCA2):c.800dup (p.Thr269fs) rs1555281594
NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter) rs397507967
NM_000059.4(BRCA2):c.8206del (p.Leu2736fs) rs397507396
NM_000059.4(BRCA2):c.8322dup (p.Met2775fs) rs80359706
NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs) rs483353077
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter) rs1131692035
NM_000059.4(BRCA2):c.9011del (p.Lys3004fs) rs886037804
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter) rs771203198
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter) rs80359222
NM_000059.4(BRCA2):c.9753del (p.Lys3251fs) rs886037805
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter) rs1554897879
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter) rs1553622530
NM_000546.6(TP53):c.416_420dup (p.Cys141fs) rs1555526250
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000586.4(IL2):c.134del (p.Ile44_Leu45insTer) rs2484759187
NM_000586.4(IL2):c.433del (p.Cys145fs) rs2484754163
NM_001826.3(CKS1B):c.33del (p.Lys11fs) rs2525716351
NM_001826.3(CKS1B):c.51del (p.Phe17fs) rs2525716661
NM_002185.5(IL7R):c.470del (p.Lys157fs) rs1717980926
NM_002228.4(JUN):c.659del (p.Pro220fs) rs2524557470
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) rs1555913881
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.4(BRCA1):c.1299dup (p.Ser434fs) rs886037786
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter) rs398122630
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter) rs80357167
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.213-1G>A rs80358146
NM_007294.4(BRCA1):c.213-2A>G rs397508940
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
NM_007294.4(BRCA1):c.2556_2557insTTCACTTTTC (p.Asp853fs) rs397508979
NM_007294.4(BRCA1):c.2570T>A (p.Leu857Ter) rs886037787
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.3266del (p.Leu1089fs) rs886040109
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.3644_3648del (p.Asn1215fs) rs1060505051
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.4(BRCA1):c.3819_3823del (p.Gln1273fs) rs886037785
NM_007294.4(BRCA1):c.4069_4070insTTGA (p.Glu1357fs) rs886037788
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.4(BRCA1):c.4287C>A (p.Tyr1429Ter) rs397509160
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.4484+2T>C rs1555582520
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4677_5075del (p.Glu1559_Thr1691del)
NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs) rs1555581104
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.4(BRCA1):c.4712del (p.Phe1571fs) rs886037790
NM_007294.4(BRCA1):c.4755del (p.Glu1586fs) rs886037789
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
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.5156del (p.Val1719fs) rs1057517590
NM_007294.4(BRCA1):c.519del (p.Gln174fs) rs886037784
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.541G>T (p.Glu181Ter) rs1131692162
NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs) rs1057518636
NM_007294.4(BRCA1):c.5470_5477del rs80357973
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.81_134del (p.Cys27_Lys45delinsTer) rs1555599208
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.3143del (p.Lys1048fs) rs1555458822
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter) rs1555461693
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
Single allele

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