ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs) rs1555592671
NM_007294.4(BRCA1):c.1015A>T (p.Lys339Ter) rs55842957
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.1600del (p.Gln534fs) rs869320776
NM_007294.4(BRCA1):c.1641_1642insG (p.Ile548fs) rs1597874930
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.4(BRCA1):c.1723dup (p.Glu575fs) rs1555591335
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.2214del (p.Val740fs) rs80357574
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs) rs2053797991
NM_007294.4(BRCA1):c.2278dup (p.Thr760fs)
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter) rs55914168
NM_007294.4(BRCA1):c.2402_2404delinsCATTTCCCCTATAGCAAAAACATGACGGCACTTACTGTATCAA (p.Cys801_Val802delinsSerPheProLeuTer) rs1567795809
NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter) rs1555588915
NM_007294.4(BRCA1):c.2921T>G (p.Leu974Ter) rs80356872
NM_007294.4(BRCA1):c.2926_2941dup (p.Pro981fs) rs2053667627
NM_007294.4(BRCA1):c.3054del (p.Asn1018fs)
NM_007294.4(BRCA1):c.346del (p.Glu116fs) rs762635795
NM_007294.4(BRCA1):c.4097-20_4134del rs2053440925
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter) rs1057517574
NM_007294.4(BRCA1):c.4271_4295del (p.Gln1424fs) rs2053050323
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.4485-2A>C rs80358054
NM_007294.4(BRCA1):c.4532dup (p.His1511fs) rs1555582009
NM_007294.4(BRCA1):c.4675+2T>G rs879255293
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs) rs1555580773
NM_007294.4(BRCA1):c.4955del (p.Met1652fs) rs2052365251
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>C rs80358087
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5145_5152+8delinsAAATAG rs1597819841
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.4(BRCA1):c.5257A>G (p.Arg1753Gly) rs1597810544
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr) rs1597801649
NM_007294.4(BRCA1):c.5406+5G>C rs80358073
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5476del (p.Gln1826fs) rs2152575457
NM_007294.4(BRCA1):c.5483del (p.Cys1828fs) rs397509288
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter) rs1555593310
NM_007294.4(BRCA1):c.715del (p.His239fs) rs879255294
NM_007294.4(BRCA1):c.788del (p.Gly263fs) rs886040319
NM_007294.4(BRCA1):c.848dup (p.Leu283fs) rs2054036520
NM_007294.4(BRCA1):c.964_968del (p.Ala322fs) rs1555592744

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