ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance for breast carcinoma

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.4748G>A (p.Arg1583Lys) rs752624544 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) rs730881442 0.00002
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) rs397508902 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300 0.00001
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386 0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.4126A>G (p.Thr1376Ala) rs576828558 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val) rs587781768 0.00001
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) rs141255461 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.465A>T (p.Gln155His) rs864622260 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met) rs587782747 0.00001
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn) rs273902779 0.00001
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg) rs748156170 0.00001
NM_007294.3(BRCA1):c.302-?_441+?(2)
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr) rs80356961
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val) rs80356981
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp) rs876659028
NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) rs770002293
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile) rs876660144
NM_007294.4(BRCA1):c.2210C>G (p.Thr737Arg) rs2154392997
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp) rs730881483
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) rs876658843
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr) rs80357097
NM_007294.4(BRCA1):c.2881A>C (p.Asn961His) rs786203786
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) rs1555588389
NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu) rs397509035
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) rs80356916
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr) rs876660684
NM_007294.4(BRCA1):c.442-2A>G rs80358155
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly) rs757726297
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys) rs397507232
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys) rs786202165
NM_007294.4(BRCA1):c.4994T>A (p.Val1665Glu) rs1476854015
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu) rs886040263
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) rs397509219
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5153-26A>G rs80358109
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys) rs397507244
NM_007294.4(BRCA1):c.5193+3_5193+4insT rs2153552780
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys) rs397509268
NM_007294.4(BRCA1):c.536A>T (p.Tyr179Phe) rs56187033
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu) rs1555574756
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) rs398122698
NM_007294.4(BRCA1):c.547+6G>A rs1400635407
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_007294.4(BRCA1):c.671-6T>G rs878854964
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly) rs55767801

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