ClinVar Miner

List of variants reported as uncertain significance for not specified by Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_000059.4(BRCA2):c.5051C>G (p.Thr1684Ser) rs80358729 0.00002
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341 0.00001
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr) rs587782320 0.00001
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp) rs80358877 0.00001
NM_000059.4(BRCA2):c.6441C>G (p.His2147Gln) rs80358879 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9257-18C>A rs81002807 0.00001
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr) rs770003991 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) rs80357129 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3998T>C (p.Val1333Ala) rs1135401872 0.00001
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro) rs80357275 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile) rs80358424
NM_000059.4(BRCA2):c.2056C>T (p.Leu686Phe) rs1135401896
NM_000059.4(BRCA2):c.2198T>G (p.Val733Gly) rs1135401897
NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala) rs876659509
NM_000059.4(BRCA2):c.426-12_426-8del rs276174844
NM_000059.4(BRCA2):c.476-9dup rs276174849
NM_000059.4(BRCA2):c.5609T>A (p.Phe1870Tyr) rs1135401908
NM_000059.4(BRCA2):c.5680_5682del (p.Tyr1894del) rs1135401909
NM_000059.4(BRCA2):c.6361G>A (p.Glu2121Lys) rs587782183
NM_000059.4(BRCA2):c.7799T>G (p.Phe2600Cys) rs1135401920
NM_000059.4(BRCA2):c.7805+3A>C rs81002810
NM_000059.4(BRCA2):c.7806-9T>G rs397507939
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.8032A>G (p.Arg2678Gly) rs80359039
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8332-9T>G rs1135401926
NM_000059.4(BRCA2):c.8364G>C (p.Trp2788Cys) rs397507981
NM_000059.4(BRCA2):c.8473G>A (p.Ala2825Thr) rs587782874
NM_000059.4(BRCA2):c.86T>G (p.Leu29Arg) rs1135401889
NM_000059.4(BRCA2):c.9491A>T (p.Asn3164Ile) rs1135401930
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.1561G>C (p.Ala521Pro) rs80357122
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.208_212+22del rs1555597152
NM_007294.4(BRCA1):c.212+10T>G rs80358174
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) rs80356913
NM_007294.4(BRCA1):c.245TTG[1] (p.Val83del) rs876660423
NM_007294.4(BRCA1):c.2911C>G (p.His971Asp) rs80357478
NM_007294.4(BRCA1):c.3481_3492del (p.Glu1161_Ser1164del) rs1555587590
NM_007294.4(BRCA1):c.3488C>T (p.Thr1163Ile) rs80356918
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4262A>T (p.His1421Leu) rs80357079
NM_007294.4(BRCA1):c.4358-6T>C rs1135401875
NM_007294.4(BRCA1):c.441G>T (p.Leu147Phe) rs748876625
NM_007294.4(BRCA1):c.4739C>A (p.Ser1580Tyr) rs80357411
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4987-5T>C rs397509214
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val) rs397509222
NM_007294.4(BRCA1):c.5086G>C (p.Val1696Leu) rs80357125
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile) rs80357428
NM_007294.4(BRCA1):c.5325G>A (p.Met1775Ile) rs1135401885
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.62T>G (p.Ile21Ser) rs1135401834
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.80+2dup rs397509324
U14680.1(BRCA1):n.561_563delCAG rs397509175

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