ClinVar Miner

List of variants studied for Familial cancer of breast by Genetics and Molecular Pathology, SA Pathology

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.*128A>G rs150444311 0.00277
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met) rs876658195 0.00004
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg) rs587781396 0.00001
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.444+4G>A rs1434760802 0.00001
NM_007294.4(BRCA1):c.465A>T (p.Gln155His) rs864622260 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe) rs765175665 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter) rs1593202166
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala) rs1174270999
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.7648A>C (p.Ile2550Leu) rs41293507
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_004360.5(CDH1):c.1215del (p.Asn405fs) rs2152133449
NM_004360.5(CDH1):c.754dup (p.Val252fs) rs2152131075
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg) rs730881690
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn) rs1555459932
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3296del (p.Thr1099fs) rs1966508003
NM_024675.4(PALB2):c.3351-7C>T rs2142255767
NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val) rs1567205179
NM_024675.4(PALB2):c.3418del (p.Trp1140fs) rs2142254289
NM_024675.4(PALB2):c.693A>T (p.Lys231Asn) rs876658847
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp) rs730881637

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