ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.5467+2T>C rs80358009 0.00001
NC_000017.10:g.(41199721_41201137)_(41203135_41209068)dup
NC_000017.10:g.(41209153_41215349)_(41228632_41234420)dup
NC_000017.10:g.(41223256_41226347)_(41258551_41267742)del
NC_000017.10:g.(41247940_41249260)_(41256279_41256884)del
NC_000017.10:g.(41247940_41249260)_41251831del
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter) rs886037985
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs) rs1555592526
NM_007294.4(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer) rs1597911705
NM_007294.4(BRCA1):c.134+1G>C rs80358043
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs) rs1555591850
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly) rs80357370
NM_007294.4(BRCA1):c.1468_1513dup (p.Lys505delinsThrThrAspAsnThrArgAlaSerProHisLysTer) rs2154441580
NM_007294.4(BRCA1):c.1604del (p.Gly535fs) rs2154434302
NM_007294.4(BRCA1):c.1670_1673del (p.Thr557fs) rs1555591390
NM_007294.4(BRCA1):c.1670_1674del (p.Thr557fs) rs2053902770
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs) rs1555591170
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs) rs397508931
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg) rs80357116
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs) rs2053797991
NM_007294.4(BRCA1):c.2295del (p.Ser766fs) rs1567796243
NM_007294.4(BRCA1):c.2346del (p.Ser782fs) rs2053777106
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs) rs397508967
NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs) rs587781423
NM_007294.4(BRCA1):c.2624del (p.Pro875fs) rs2154368003
NM_007294.4(BRCA1):c.2693_2694dup (p.Val899fs) rs80357549
NM_007294.4(BRCA1):c.2728del (p.Gln910fs) rs397509005
NM_007294.4(BRCA1):c.2748del (p.Asn916fs) rs398122667
NM_007294.4(BRCA1):c.2806_2807del (p.Lys935_Asp936insTer) rs886038004
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter) rs878854941
NM_007294.4(BRCA1):c.379del (p.Ser127fs) rs1555596373
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs) rs398122682
NM_007294.4(BRCA1):c.4185+1G>C rs80358076
NM_007294.4(BRCA1):c.4185+2_4185+21del rs2154249606
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His) rs80356857
NM_007294.4(BRCA1):c.4211del (p.Leu1404fs) rs1555584251
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) rs786204267
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.441+1G>C
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs) rs1567778176
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs) rs1567777811
NM_007294.4(BRCA1):c.4643del (p.Thr1548fs) rs2153993720
NM_007294.4(BRCA1):c.4781del (p.Pro1594fs) rs2052409873
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs) rs1555580840
NM_007294.4(BRCA1):c.4870_4871insA (p.Gly1624fs) rs2052392843
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu) rs80357261
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser) rs1567772408
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs) rs80357710
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter) rs2051929740
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala) rs397509227
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5152+5G>T rs80358165
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs) rs483353071
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.547+1G>C rs80358030
NM_007294.4(BRCA1):c.5502_5503del (p.Glu1836fs)
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs) rs1597796956
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro) rs80357019
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn) rs2050860958
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs) rs886039675
NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter) rs1555593598
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.671-2A>G rs80358108
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs) rs1555592766

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