ClinVar Miner

List of variants reported as uncertain significance for Breast and/or ovarian cancer by Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_007294.4(BRCA1):c.3515A>G (p.Glu1172Gly) rs80357206 0.00006
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136 0.00002
NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr) rs755201475 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) rs80357176 0.00002
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295 0.00001
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg) rs80358791 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr) rs770003991 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser) rs863224758 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_000059.4(BRCA2):c.3863A>T (p.Asn1288Ile) rs80358630
NM_000059.4(BRCA2):c.4547T>A (p.Ile1516Asn) rs80358689
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile) rs80358698
NM_000059.4(BRCA2):c.475+3A>T rs81002795
NM_000059.4(BRCA2):c.5312G>T (p.Gly1771Val) rs80358755
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7078T>C (p.Ser2360Pro) rs1555285991
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly) rs397507417
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9435_9443del (p.Phe3146_Ala3148del) rs587782367
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_007294.4(BRCA1):c.2392C>G (p.Pro798Ala) rs398122658
NM_007294.4(BRCA1):c.3809G>A (p.Cys1270Tyr) rs1207787135
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5236C>T (p.His1746Tyr) rs80357146
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu) rs876660096
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln) rs80357066

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