ClinVar Miner

List of variants in gene BRCA1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.*1287C>T rs12516 0.30331
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_007294.4(BRCA1):c.*421G>T rs8176318 0.28553
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_007294.4(BRCA1):c.*1332G>A rs8176320 0.01007
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_007294.4(BRCA1):c.*781C>T rs8176319 0.00732
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_007294.4(BRCA1):c.*1113G>A rs111791349 0.00512
NM_007294.4(BRCA1):c.*750A>G rs138782023 0.00430
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_007294.4(BRCA1):c.*854del rs886052970 0.00238
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_007294.4(BRCA1):c.*854_*855del rs886052969 0.00164
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_007294.4(BRCA1):c.*1323A>G rs189382442 0.00107
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_007294.4(BRCA1):c.*1292T>C rs182218567 0.00030
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_007294.4(BRCA1):c.*485G>A rs527725740 0.00025
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.*693C>T rs540031582 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.*1327G>A rs184237074 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.*272A>G rs8176317 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.*1281C>T rs975464399 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.671-10A>G rs398122707 0.00003
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007294.4(BRCA1):c.*387T>G rs886052973 0.00001
NM_007294.4(BRCA1):c.*465G>A rs886052972 0.00001
NM_007294.4(BRCA1):c.*685C>G rs952941718 0.00001
NM_007294.4(BRCA1):c.*743G>T rs886052971 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386 0.00001
NM_007294.4(BRCA1):c.1878A>G (p.Val626=) rs8176154 0.00001
NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile) rs80357425 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.4987-11T>C rs80358170 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5586C>T (p.His1862=) rs774127304 0.00001
NM_007294.4(BRCA1):c.997A>G (p.Thr333Ala) rs786201634 0.00001
NM_007294.4(BRCA1):c.*1285C>A rs757676381
NM_007294.4(BRCA1):c.*58C>T rs137892861
NM_007294.4(BRCA1):c.*872_*873del rs59541324
NM_007294.4(BRCA1):c.*873del rs59541324
NM_007294.4(BRCA1):c.1099A>G (p.Thr367Ala) rs878854929
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1866G>C (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe) rs80356956
NM_007294.4(BRCA1):c.1930T>A (p.Cys644Ser) rs753521391
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.212+5A>G rs2054767462
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly) rs398122655
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2812C>T (p.Pro938Ser) rs1597867531
NM_007294.4(BRCA1):c.2872T>C (p.Phe958Leu) rs80356878
NM_007294.4(BRCA1):c.2933A>G (p.Tyr978Cys) rs863224756
NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter) rs397509035
NM_007294.4(BRCA1):c.4268G>T (p.Ser1423Ile) rs876660129
NM_007294.4(BRCA1):c.4352A>G (p.Glu1451Gly) rs949793708
NM_007294.4(BRCA1):c.4766G>C (p.Arg1589Pro) rs80357341
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.506A>C (p.Gln169Pro) rs587780803
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5374G>A (p.Val1792Met) rs1555575131
NM_007294.4(BRCA1):c.5407-4C>G rs876660347
NM_007294.4(BRCA1):c.5466T>C (p.His1822=) rs886052975
NM_007294.4(BRCA1):c.5467+14A>G rs886052974
NM_007294.4(BRCA1):c.548-9A>T rs80358052
NM_007294.4(BRCA1):c.548G>T (p.Gly183Val) rs1555594081
NM_007294.4(BRCA1):c.593+11G>A rs2054175603
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.716A>T (p.His239Leu) rs80357396
NM_007294.4(BRCA1):c.727A>T (p.Asn243Tyr) rs587782123
NM_007294.4(BRCA1):c.81-12C>A rs80358055
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153

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