ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic for Breast and/or ovarian cancer

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Total variants: 64
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HGVS dbSNP
NM_007294.3(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.3(BRCA1):c.115_116TG[1] (p.Cys39_Asp40delinsTer) rs80357972
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) rs80357526
NM_007294.3(BRCA1):c.1960_1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1961dupA (p.Lys654delinsLysValfs) rs80357522
NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.212+1G>A rs80358042
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.3(BRCA1):c.213-11T>G rs80358061
NM_007294.3(BRCA1):c.213-?_301+?del
NM_007294.3(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_007294.3(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.3(BRCA1):c.2311_2317del (p.Pro773fs) rs1060502354
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.3(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.3(BRCA1):c.269_281del (p.Ile90fs) rs80359879
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.302-2delA rs273899695
NM_007294.3(BRCA1):c.3279del (p.Tyr1094fs) rs397509050
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3649_3650insA (p.Ser1217fs) rs80357831
NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) rs80357797
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) rs80357848
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.3(BRCA1):c.442-43_524del rs1555594841
NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.3(BRCA1):c.4487C>G (p.Ser1496Ter) rs80356953
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.3(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.3(BRCA1):c.5106del (p.Lys1702fs) rs80357553
NM_007294.3(BRCA1):c.514del (p.Gln172fs) rs80357872
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5277+1G>A rs80358150
NM_007294.3(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.3(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.3(BRCA1):c.895_896del (p.Val299fs) rs80357670
NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.3(BRCA1):c.963G>A (p.Trp321Ter) rs886040335

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