ClinVar Miner

List of variants reported by Department of Pathology and Molecular Medicine,Queen's University

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ClinVar version:
Total variants: 110
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HGVS dbSNP
NC_000017.10:g.(?_41201201)_(41209076_?)del
NC_000017.10:g.(?_41223008)_(41234592_?)del
NM_000059.3(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.3(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.3(BRCA2):c.1798_1799TA[1] (p.Tyr600_Lys601delinsTer) rs1135401894
NM_000059.3(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.3(BRCA2):c.1834G>A (p.Glu612Lys) rs1135401938
NM_000059.3(BRCA2):c.1909+22del rs276174816
NM_000059.3(BRCA2):c.2287C>G (p.His763Asp) rs863224585
NM_000059.3(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.3(BRCA2):c.2389A>G (p.Lys797Glu) rs587782737
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.3051del (p.Lys1018fs) rs80359367
NM_000059.3(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.3(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs) rs80359393
NM_000059.3(BRCA2):c.3861_3863TAA[1] (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs) rs80359454
NM_000059.3(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.3(BRCA2):c.4648G>C (p.Glu1550Gln) rs80358695
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.4957A>G (p.Thr1653Ala) rs587782186
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs) rs80359499
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6528_6535dup (p.Val2179fs) rs1555284738
NM_000059.3(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.3(BRCA2):c.68-7del rs276174878
NM_000059.3(BRCA2):c.681+56C>G rs2126042
NM_000059.3(BRCA2):c.681+56C>T rs2126042
NM_000059.3(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.3(BRCA2):c.688A>T (p.Lys230Ter) rs80358913
NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.3(BRCA2):c.751_754ACAG[1] (p.Asp252fs) rs80359659
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.7617+2T>G rs81002843
NM_000059.3(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003
NM_000059.3(BRCA2):c.7806-14T>C rs9534262
NM_000059.3(BRCA2):c.8487+20C>T rs1135401939
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.3(BRCA2):c.8533_8534AG[2] (p.Glu2846fs) rs80359714
NM_000059.3(BRCA2):c.8770G>T (p.Glu2924Ter) rs80359133
NM_000059.3(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.891_899delinsGATACTTAG (p.Thr298_Val300delinsIleLeuArg) rs1135401937
NM_000059.3(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs) rs276174914
NM_000059.3(BRCA2):c.9019A>G (p.Arg3007Gly) rs397507417
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9257-15T>C rs1135401940
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.3(BRCA1):c.1390_1391insG (p.Thr464fs) rs397508867
NM_007294.3(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030
NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) rs80357505
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.3(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer) rs80357899
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.3155A>G (p.Asn1052Ser) rs398122672
NM_007294.3(BRCA1):c.3220A>G (p.Arg1074Gly) rs80357263
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) rs80357687
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4039_4040AG[1] (p.Gly1348fs) rs80357727
NM_007294.3(BRCA1):c.4073A>G (p.Glu1358Gly) rs397507225
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.4348del (p.Ser1450fs) rs1135401932
NM_007294.3(BRCA1):c.4822dup (p.Ala1608fs) rs1135401933
NM_007294.3(BRCA1):c.4901_4919del (p.Arg1634fs) rs1555580678
NM_007294.3(BRCA1):c.5039_5040del (p.Ile1680fs) rs1135401935
NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171
NM_007294.3(BRCA1):c.5200_5201insC (p.Phe1734fs) rs1135401936
NM_007294.3(BRCA1):c.522A>G (p.Gln174=) rs765432756
NM_007294.3(BRCA1):c.547G>C (p.Gly183Arg) rs1135401931
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.670+8C>T rs80358050
NM_007294.3(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.81-?_134+?del

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