ClinVar Miner

List of variants studied for Familial cancer of breast by Leiden Open Variation Database

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.3114-51= rs249936 0.99999
NM_024675.4(PALB2):c.2586+58C>T rs249954 0.31139
NM_024675.4(PALB2):c.1684+1597T>C rs16940342 0.18113
NM_024675.4(PALB2):c.2997-624G>C rs447529 0.12992
NM_024675.4(PALB2):c.3113+1376C>G rs369444 0.07316
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_024675.4(PALB2):c.212-58A>C rs80291632 0.02171
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_024675.4(PALB2):c.1684+29A>G rs74320059 0.01884
NM_024675.4(PALB2):c.2586+81C>T rs114710547 0.00885
NM_024675.4(PALB2):c.2996+183del rs199767268 0.00748
NM_024675.3(PALB2):c.-158G>C rs138200248 0.00631
NM_024675.4(PALB2):c.3113+131G>T rs150730533 0.00355
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_024675.4(PALB2):c.2514+71del rs180177114 0.00197
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_024675.4(PALB2):c.2996+124C>T rs151026179 0.00164
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_024675.4(PALB2):c.*232G>T rs180748355 0.00141
NM_024675.3(PALB2):c.*347A>C rs515726053 0.00140
NM_024675.4(PALB2):c.2748+121T>C rs515726093 0.00131
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_024675.4(PALB2):c.2587-38C>G rs180177119 0.00082
NM_024675.4(PALB2):c.2835-27C>T rs199757736 0.00079
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_024675.4(PALB2):c.3201+96G>A rs373044186 0.00050
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_024675.4(PALB2):c.212-70T>C rs515726080 0.00014
NM_024675.4(PALB2):c.3201+112A>G rs376034945 0.00011
NM_024675.3(PALB2):c.-194C>G rs515726054 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_024675.4(PALB2):c.48+27G>T rs515726119 0.00010
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_024675.4(PALB2):c.3114-40T>G rs515726105 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024675.4(PALB2):c.2442G>A (p.Glu814=) rs140776736 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_024675.4(PALB2):c.3114-42G>T rs515726106 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.212-33A>C rs515726079 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg) rs45505500 0.00003
NM_024675.4(PALB2):c.1743A>G (p.Leu581=) rs180177105 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) rs369132015 0.00002
NM_024675.4(PALB2):c.3202-45A>G rs370826543 0.00002
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly) rs786203345 0.00002
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) rs515726116 0.00002
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu) rs759810283 0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=) rs180177093 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_024675.4(PALB2):c.-25C>A rs515726056 0.00001
NM_024675.4(PALB2):c.1038A>G (p.Lys346=) rs515726059 0.00001
NM_024675.4(PALB2):c.109-5T>C rs749299119 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) rs765125459 0.00001
NM_024675.4(PALB2):c.1380A>G (p.Gln460=) rs372641262 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.229del (p.Cys77fs) rs180177084 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.2514+3A>G rs515726088 0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.2587-25A>G rs772989395 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) rs773831304 0.00001
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) rs515726101 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_024675.4(PALB2):c.2888del (p.Ser963fs) rs587776420 0.00001
NM_024675.4(PALB2):c.292A>G (p.Ile98Val) rs587782831 0.00001
NM_024675.4(PALB2):c.3024C>T (p.Pro1008=) rs180177130 0.00001
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) rs377713277 0.00001
NM_024675.4(PALB2):c.3350+11A>G rs515726114 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) rs372686500 0.00001
NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr) rs180177139 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys) rs515726127 0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) rs45561331 0.00001
NM_024675.4(PALB2):c.956C>A (p.Ser319Tyr) rs200144401 0.00001
NC_000016.10:g.(23608013_23614003)_(23626398_23629203)del
NC_000016.10:g.(?_23603162)_(23603670_23607863)del
NC_000016.10:g.(?_23603162)_(23608013_23614003)del
NM_024675.3(PALB2):c.-200-27T>G rs515726055
NM_024675.3(PALB2):c.1050_1051delinsTCT (p.Gln350fs) rs180177098
NM_024675.3(PALB2):c.2835-281_3113+1374del
NM_024675.3(PALB2):c.2835-324_3202-1757dup
NM_024675.4(PALB2):c.-104C>T rs1597102015
NM_024675.4(PALB2):c.-145G>C rs373698818
NM_024675.4(PALB2):c.-46G>A rs180177141
NM_024675.4(PALB2):c.-98C>A rs515726058
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
NM_024675.4(PALB2):c.108+59C>G rs515726061
NM_024675.4(PALB2):c.1095G>C (p.Arg365Ser) rs515726062
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) rs587776411
NM_024675.4(PALB2):c.1206del (p.Leu403fs) rs876658431
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer) rs1555461385
NM_024675.4(PALB2):c.123del (p.Glu42fs) rs1967104136
NM_024675.4(PALB2):c.1285A>G (p.Ile429Val) rs1555461360
NM_024675.4(PALB2):c.1285delinsTC (p.Ile429fs) rs1966979701
NM_024675.4(PALB2):c.1317G>A (p.Gly439=) rs515726066
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly) rs1031787378
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1431del (p.Ser478fs) rs587776412
NM_024675.4(PALB2):c.1461C>T (p.Val487=) rs515726069
NM_024675.4(PALB2):c.1468C>T (p.Pro490Ser) rs878855101
NM_024675.4(PALB2):c.1475G>T (p.Gly492Val) rs515726070
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.155T>C (p.Val52Ala) rs373970237
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs) rs587776414
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1646A>G (p.His549Arg) rs1597095334
NM_024675.4(PALB2):c.1656G>A (p.Gln552=) rs180177104
NM_024675.4(PALB2):c.1659C>A (p.His553Gln) rs370318597
NM_024675.4(PALB2):c.1684+18TGA[7] rs368593832
NM_024675.4(PALB2):c.1684+18TGA[9] rs368593832
NM_024675.4(PALB2):c.1684+42_1684+43insATG rs180177106
NM_024675.4(PALB2):c.1685-58C>A rs180177108
NM_024675.4(PALB2):c.1685-70T>G rs180177109
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter) rs1966866081
NM_024675.4(PALB2):c.1847A>G (p.Asp616Gly) rs876660063
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1942_1945delinsAAC (p.Leu648fs) rs1966863076
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter) rs1555460542
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2091C>G (p.Gly697=) rs875989797
NM_024675.4(PALB2):c.2093T>C (p.Leu698Pro) rs1966860685
NM_024675.4(PALB2):c.212-180T>G rs515726076
NM_024675.4(PALB2):c.212-25T>A rs515726077
NM_024675.4(PALB2):c.212-25_212-24insTA rs515726078
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024675.4(PALB2):c.2205A>G (p.Pro735=) rs515726082
NM_024675.4(PALB2):c.2272C>A (p.Pro758Thr) rs1064794078
NM_024675.4(PALB2):c.2275C>A (p.Gln759Lys) rs515726083
NM_024675.4(PALB2):c.2301C>A (p.Val767=) rs515726084
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.2418G>T (p.Pro806=) rs577076372
NM_024675.4(PALB2):c.243G>A (p.Lys81=) rs1060502775
NM_024675.4(PALB2):c.2469C>A (p.Leu823=) rs515726087
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2586+31T>G rs180177117
NM_024675.4(PALB2):c.2587-37G>C rs180177118
NM_024675.4(PALB2):c.2587-404_2834+310del
NM_024675.4(PALB2):c.2587-59T>C rs371085248
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) rs1304351755
NM_024675.4(PALB2):c.2661C>A (p.Ile887=) rs180177120
NM_024675.4(PALB2):c.2686dup (p.Ser896fs) rs1555459954
NM_024675.4(PALB2):c.26T>A (p.Leu9His) rs515726092
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2732C>T (p.Thr911Ile) rs180177123
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter) rs180177124
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer) rs587776418
NM_024675.4(PALB2):c.2823C>A (p.Ile941=) rs515726095
NM_024675.4(PALB2):c.2834+12C>T rs515726096
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+20T>G rs515726097
NM_024675.4(PALB2):c.2834+21_2834+27del rs515726098
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_024675.4(PALB2):c.2837C>G (p.Ala946Gly) rs515726100
NM_024675.4(PALB2):c.2865T>A (p.Ser955Arg) rs515726102
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2996+58T>C rs180177129
NM_024675.4(PALB2):c.3026del (p.Pro1009fs) rs180177131
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_024675.4(PALB2):c.3053A>C (p.Glu1018Ala) rs1567212910
NM_024675.4(PALB2):c.3094A>T (p.Met1032Leu) rs1555459367
NM_024675.4(PALB2):c.3114-3511_3201+191del
NM_024675.4(PALB2):c.3143A>G (p.Lys1048Arg) rs515726107
NM_024675.4(PALB2):c.3201+1125T>C rs515726109
NM_024675.4(PALB2):c.3201+115T>C rs515726110
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3287A>G (p.Asn1096Ser) rs786201142
NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg) rs587781308
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) rs515726112
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=) rs515726113
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly) rs62625283
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro) rs62625284
NM_024675.4(PALB2):c.3433G>C (p.Gly1145Arg) rs180177137
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs) rs587776427
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile) rs1308784980
NM_024675.4(PALB2):c.3504C>G (p.Asp1168Glu) rs1966396729
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.48+1G>C rs515726118
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-173G>T rs515726120
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.49-54C>T rs515726121
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.505C>A (p.Leu169Ile) rs180177086
NM_024675.4(PALB2):c.618T>G (p.Leu206=) rs180177088
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg) rs515726125
NM_024675.4(PALB2):c.632A>G (p.Glu211Gly) rs180177089
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) rs587782531
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) rs730881905
NM_024675.4(PALB2):c.696dup (p.Val233fs) rs1967028249
NM_024675.4(PALB2):c.697del (p.Val233fs) rs180177090
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) rs1248579792
NM_024675.4(PALB2):c.759dup (p.Ser254fs) rs1967023129
NM_024675.4(PALB2):c.832C>G (p.Leu278Val) rs515726128
NM_024675.4(PALB2):c.83A>G (p.Tyr28Cys) rs515726129
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu) rs180177094
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) rs587776408
NM_024675.4(PALB2):c.901_907del (p.Asp301fs) rs1555461551
NM_024675.4(PALB2):c.90G>T (p.Lys30Asn) rs515726130
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) rs587776409
NM_024675.4(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_032486.4(DCTN5):c.-27C>G rs515726057
NM_058216.3(RAD51C):c.180T>C (p.Thr60=) rs755092293
PALB2:c.2515-1G>T rs587776417

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