ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.*1186A>G rs552911643 0.00046
NM_007294.4(BRCA1):c.*485G>A rs527725740 0.00025
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.*713C>T rs773119778 0.00018
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_007294.4(BRCA1):c.*928C>T rs758556342 0.00010
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.*1086A>C rs940642132 0.00007
NM_007294.4(BRCA1):c.*186G>A rs748299111 0.00006
NM_007294.4(BRCA1):c.*595G>A rs937158659 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_007294.4(BRCA1):c.*265G>A rs1027194657 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_007294.4(BRCA1):c.*1358A>G rs1289329363 0.00002
NM_007294.4(BRCA1):c.*954A>C rs954025741 0.00002
NM_007294.4(BRCA1):c.*1336A>G rs1233730333 0.00001
NM_007294.4(BRCA1):c.*465G>A rs886052972 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934 0.00001
NM_007294.4(BRCA1):c.2215A>G (p.Lys739Glu) rs56329598 0.00001
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp) rs397507199 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4699G>A (p.Gly1567Arg) rs568753972 0.00001
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.923G>C (p.Ser308Thr) rs561998108 0.00001
NM_007294.4(BRCA1):c.*306C>G rs1336759680
NM_007294.4(BRCA1):c.*381_*389delinsAAGCACAGAGTGGCTTGGCCTCAAGAG rs2152399492
NM_007294.4(BRCA1):c.*482T>G rs2152380895
NM_007294.4(BRCA1):c.*548G>C rs2152367567
NM_007294.4(BRCA1):c.*565del rs1161373562
NM_007294.4(BRCA1):c.*616_*617delinsAA rs2152346777
NM_007294.4(BRCA1):c.*683C>G rs2050815603
NM_007294.4(BRCA1):c.*859A>C rs2050804212
NM_007294.4(BRCA1):c.*867_*873del rs59541324
NM_007294.4(BRCA1):c.*869_*873del rs59541324
NM_007294.4(BRCA1):c.1413C>T (p.Leu471=) rs2154447279
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala) rs587776482
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp) rs397508970
NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe) rs587781588
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4393A>G (p.Ile1465Val) rs1567779778
NM_007294.4(BRCA1):c.441+9A>G rs1555596273
NM_007294.4(BRCA1):c.4565A>G (p.Tyr1522Cys) rs80357379
NM_007294.4(BRCA1):c.466C>T (p.Leu156Phe) rs587778115
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr) rs191872612
NM_007294.4(BRCA1):c.829A>G (p.Asn277Asp) rs2054040121

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