ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NC_000017.10:g.(?_41199640)_(41203154_?)dup
NC_000017.10:g.(?_41201118)_(41203154_?)dup
NC_000017.10:g.(?_41209048)_(41209172_?)dup
NC_000017.10:g.(?_41209048)_(41215988_?)dup
NC_000017.10:g.(?_41209049)_(41215988_?)dup
NC_000017.10:g.(?_41209063)_(41209158_?)dup
NC_000017.10:g.(?_41215330)_(41223340_?)dup
NC_000017.10:g.(?_41226531)_(41230159_?)del
NC_000017.10:g.(?_41228505)_(41234592_?)dup
NC_000017.10:g.(?_41242941)_(41249326_?)dup
NC_000017.10:g.(?_41245526)_(41252711_?)del
NC_000017.10:g.(?_41247857)_(41251903_?)del
NC_000017.10:g.(?_41249241)_(41251921_?)dup
NC_000017.10:g.(?_41251772)_(41251917_?)dup
NC_000017.10:g.(?_41251772)_(41251921_?)dup
NC_000017.10:g.(?_41251772)_(41258570_?)dup
NC_000017.10:g.(?_41251772)_(41267816_?)dup
NC_000017.10:g.(?_41256119)_(41258570_?)dup
NC_000017.10:g.(?_41256119)_(41267816_?)dup
NC_000017.10:g.(?_41267737)_(41267802_?)dup
NC_000017.11:g.(?_43070908)_(43071258_?)dup
NC_000017.11:g.(?_43074311)_(43082595_?)dup
NC_000017.11:g.(?_43076468)_(43082595_?)dup
NC_000017.11:g.(?_43090924)_(43099904_?)del
NC_000017.11:g.(?_43090924)_(43115799_?)dup
NC_000017.11:g.(?_43106450)_(43106539_?)del
NC_000017.11:g.(?_43115706)_(43115799_?)dup
NM_007294.3(BRCA1):c.135-?_441+?dup
NM_007294.3(BRCA1):c.4358-?_5074+?del
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.5075-?_5277+?dup203
NM_007294.3(BRCA1):c.5278-?_5406+?dup129
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.121C>G (p.His41Asp) rs1060502353
NM_007294.4(BRCA1):c.122_134delinsT (p.His41_Lys45delinsLeu) rs1555599205
NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp) rs876658362
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.134+5G>C rs80358038
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.212+3A>T rs80358083
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.4(BRCA1):c.213-5T>A rs886038196
NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn) rs80357110
NM_007294.4(BRCA1):c.286G>C (p.Asp96His) rs80357110
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.302-3C>G rs80358051
NM_007294.4(BRCA1):c.4097-20_4134del rs2053440925
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.4484+1del rs397509181
NM_007294.4(BRCA1):c.4485-1G>C rs80358189
NM_007294.4(BRCA1):c.4485-2A>C rs80358054
NM_007294.4(BRCA1):c.4485-2A>T rs80358054
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4676-1G>A rs80358008
NM_007294.4(BRCA1):c.4676-1G>C rs80358008
NM_007294.4(BRCA1):c.4676-2A>C rs80358096
NM_007294.4(BRCA1):c.4676-2A>G rs80358096
NM_007294.4(BRCA1):c.4986+5G>C rs397509211
NM_007294.4(BRCA1):c.4987-3C>G rs397509213
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074+3A>T rs80358181
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5090G>T (p.Cys1697Phe) rs397507241
NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp) rs1597820426
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu) rs41293459
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp) rs863224763
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5117G>T (p.Gly1706Val) rs80356860
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5141T>C (p.Val1714Ala) rs80357243
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5152+2dup rs397509231
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5215G>A (p.Asp1739Asn) rs80357283
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) rs80357283
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) rs397507245
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys) rs397507245
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly) rs80357123
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser) rs771577266
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5297T>C (p.Ile1766Thr) rs80357463
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5324T>C (p.Met1775Thr) rs41293463
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5339T>A (p.Leu1780Gln) rs80357474
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) rs80357474
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr) rs1597801649
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) rs397509271
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala) rs80357069
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.5366C>A (p.Ala1789Asp) rs2051085308
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.53T>G (p.Met18Arg) rs80356929
NM_007294.4(BRCA1):c.5406+1_5406+3del rs397509277
NM_007294.4(BRCA1):c.5406+4_5406+7del rs1555575073
NM_007294.4(BRCA1):c.5406+5G>C rs80358073
NM_007294.4(BRCA1):c.5407-2A>G rs80358002
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5467+2T>G rs80358009
NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu)
NM_007294.4(BRCA1):c.5498T>G (p.Val1833Gly)
NM_007294.4(BRCA1):c.5510_5511delinsCT (p.Trp1837Ser) rs2152547868
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr) rs80357368
NM_007294.4(BRCA1):c.5522G>T (p.Ser1841Ile) rs80357368
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs) rs886040305
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn) rs2050860958
NM_007294.4(BRCA1):c.5557T>C (p.Tyr1853His) rs2050860958
NM_007294.4(BRCA1):c.5557_5569del (p.Tyr1853fs) rs2050856829
NM_007294.4(BRCA1):c.5558_5561dup (p.Ile1855fs) rs2050859456
NM_007294.4(BRCA1):c.5563delinsGGATCC (p.Ile1855fs) rs483353103
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.670+295_844del rs2154490085
NM_007294.4(BRCA1):c.671-1G>C rs80358020
NM_007294.4(BRCA1):c.671-215_901del rs1555592870
NM_007294.4(BRCA1):c.671-2A>C rs80358108
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser) rs80357410
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly) rs80357410
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr) rs1064793052
NM_007294.4(BRCA1):c.80G>C (p.Cys27Ser) rs1064793052
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) rs1064793052

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