ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic for not specified

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
GRCh37/hg19 17q21.31(chr17:41235798-41248470)
NC_000017.11:g.(?_43070991)_(43082575_?)del
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1110del (p.Pro371fs) rs1555592474
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer) rs879255320
NM_007294.4(BRCA1):c.134+1G>C rs80358043
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) rs80356889
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs) rs786202684
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter) rs397509002
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5193+1G>A rs80358004
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5228del (p.Gly1743fs) rs1567764473
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter) rs879255319
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292

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