ClinVar Miner

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

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.*854del rs886052970 0.00238
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.*854_*855del rs886052969 0.00164
NM_007294.4(BRCA1):c.*1323A>G rs189382442 0.00107
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
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.736T>G (p.Leu246Val) rs28897675 0.00026
NM_007294.4(BRCA1):c.*485G>A rs527725740 0.00025
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.*693C>T rs540031582 0.00011
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 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.946A>G (p.Ser316Gly) rs55874646 0.00006
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.2286A>T (p.Arg762Ser) rs273898682 0.00004
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.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.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.212+5A>G rs2054767462
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly) rs398122655
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.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.506A>C (p.Gln169Pro) rs587780803
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.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.823G>A (p.Gly275Ser) rs8176153

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