ClinVar Miner

List of variants in gene BRCA1 reported by German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne

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Gene type:
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Total variants: 68
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HGVS dbSNP
NM_007294.3(BRCA1):c.(134+1_135-1)_(547+1_548-1)del
NM_007294.3(BRCA1):c.(441+1_442-1)_(547+1_548-1)del
NM_007294.3(BRCA1):c.(5074+1_5075-1)_(5193+1_5194-1)del
NM_007294.3(BRCA1):c.(5467+1_5468-1)_(*1_?)del
NM_007294.3(BRCA1):c.(547+1_548+1)_(4185+1_4186-1)del
NM_007294.3(BRCA1):c.(80+1_81-1)_(5193+1_5194-1)del
NM_007294.3(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter) rs80357468
NM_007294.3(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.3(BRCA1):c.1193C>G (p.Ser398Ter) rs80357068
NM_007294.3(BRCA1):c.1214C>A (p.Ser405Ter) rs80357481
NM_007294.3(BRCA1):c.1271_1301dup (p.Ser434fs) rs1567800087
NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) rs80357516
NM_007294.3(BRCA1):c.1902dup (p.Asn635Ter) rs1567797787
NM_007294.3(BRCA1):c.1920_1939del (p.Gln640_Ile641insTer) rs1567797661
NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) rs80357526
NM_007294.3(BRCA1):c.212G>C (p.Arg71Thr) rs80356913
NM_007294.3(BRCA1):c.2209del (p.Thr737fs) rs1060502333
NM_007294.3(BRCA1):c.2475del (p.Asp825fs) rs80357970
NM_007294.3(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.3(BRCA1):c.2670del (p.Ser891fs) rs80357659
NM_007294.3(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.3(BRCA1):c.3096del (p.Glu1033fs) rs1567792938
NM_007294.3(BRCA1):c.3108dup (p.Lys1037Ter) rs80357841
NM_007294.3(BRCA1):c.3268C>T (p.Gln1090Ter) rs80357402
NM_007294.3(BRCA1):c.3352C>T (p.Gln1118Ter) rs397507215
NM_007294.3(BRCA1):c.342del (p.Pro115fs) rs886040129
NM_007294.3(BRCA1):c.346G>T (p.Glu116Ter) rs397509071
NM_007294.3(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs) rs80357609
NM_007294.3(BRCA1):c.3751_3769del (p.Cys1251fs) rs1567790190
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3768_3769AG[1] (p.Glu1257fs) rs80357579
NM_007294.3(BRCA1):c.397del (p.Arg133fs) rs886037973
NM_007294.3(BRCA1):c.4093T>G (p.Leu1365Val) rs1567788936
NM_007294.3(BRCA1):c.4210del (p.Asn1403_Leu1404insTer) rs80357765
NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989
NM_007294.3(BRCA1):c.4487C>A (p.Ser1496Ter) rs80356953
NM_007294.3(BRCA1):c.4531_4532CA[1] (p.His1511fs) rs80357534
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.4932_4933dup (p.Arg1645fs) rs80357833
NM_007294.3(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.3(BRCA1):c.4945del (p.Arg1649fs) rs80357655
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5084_5085del (p.Phe1695fs) rs80357760
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5153-2delA rs273901746
NM_007294.3(BRCA1):c.5173_5176GAAA[1] (p.Arg1726fs) rs80357867
NM_007294.3(BRCA1):c.5193+1del rs397509236
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5333-1G>T rs80358126
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.3:c.(?_-233)_(134+1_135-1)del
NM_007294.3:c.(?_-233)_(441+1_442-1)del
NM_007294.3:c.(?_-233)_(5074+1_5075-1)del
NM_007298.3(BRCA1):c.787+1068del rs1567798003
NM_007298.3(BRCA1):c.787+120del rs1567801576
NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007299.4(BRCA1):c.213-12A>G rs80358163
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007300.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007300.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465

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