ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168 0.00004
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_007294.4(BRCA1):c.1336A>G (p.Arg446Gly) rs587781715 0.00001
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300 0.00001
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg) rs80357221 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902 0.00001
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal) rs80358331 0.00001
NM_007294.4(BRCA1):c.259T>G (p.Leu87Val) rs80357091 0.00001
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys) rs41293445 0.00001
NM_007294.4(BRCA1):c.4534A>T (p.Ser1512Cys) rs80357137 0.00001
NM_007294.4(BRCA1):c.4679G>T (p.Gly1560Val) rs564757581 0.00001
NM_007294.4(BRCA1):c.4846G>A (p.Ala1616Thr) rs890599236 0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464 0.00001
NM_007294.4(BRCA1):c.1763_1764delinsTT (p.Ser588Ile) rs1555591274
NM_007294.4(BRCA1):c.1837A>G (p.Arg613Gly) rs863224753
NM_007294.4(BRCA1):c.1895G>A (p.Ser632Asn) rs80356983
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.4(BRCA1):c.2153T>G (p.Leu718Arg) rs748550848
NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg) rs1555589837
NM_007294.4(BRCA1):c.2774T>C (p.Ile925Thr) rs1567794296
NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val) rs786203979
NM_007294.4(BRCA1):c.4358-2755C>G
NM_007294.4(BRCA1):c.4441G>A (p.Ala1481Thr) rs1135401828
NM_007294.4(BRCA1):c.4492C>T (p.Pro1498Ser) rs1597836625
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr) rs1060502325
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del) rs80358347
NM_007294.4(BRCA1):c.5234A>G (p.Asn1745Ser) rs1567764456
NM_007294.4(BRCA1):c.5333-46G>A rs1347755058
NM_007294.4(BRCA1):c.5380G>A (p.Glu1794Lys) rs776323117
NM_007294.4(BRCA1):c.5485G>A (p.Glu1829Lys) rs869320789
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del) rs775417240
NM_007294.4(BRCA1):c.626C>T (p.Pro209Leu) rs201596327
NM_007294.4(BRCA1):c.66A>C (p.Leu22Phe) rs786202533

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