ClinVar Miner

List of variants in gene PALB2 reported as pathogenic by Leiden Open Variation Database

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 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.1653T>A (p.Tyr551Ter) rs118203997 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.2888del (p.Ser963fs) rs587776420 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 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
NC_000016.10:g.(23608013_23614003)_(23626398_23629203)del
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NC_000016.10:g.(?_23603162)_(23603670_23607863)del
NC_000016.10:g.(?_23603162)_(23608013_23614003)del
NC_000016.10:g.23603162_(23608013_23614003)del
NG_007406.1:g.(5249_8228)_(17155_19960)del
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.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1038_1041del (p.Lys346fs) rs1966999709
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) rs1060502788
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
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.1314del (p.Phe440fs) rs515726065
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) rs1597096243
NM_024675.4(PALB2):c.1396_1399dup (p.Gly467fs) rs1966971699
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1431del (p.Ser478fs) rs587776412
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer) rs1966967065
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter) rs1567220802
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
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.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter) rs1966866081
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.2083A>T (p.Lys695Ter) rs1567218141
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) rs730881888
NM_024675.4(PALB2):c.2235del (p.Ala746fs) rs1966858562
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.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) rs587778587
NM_024675.4(PALB2):c.2514+2T>C rs1343145658
NM_024675.4(PALB2):c.2521del (p.Thr841fs) rs180177116
NM_024675.4(PALB2):c.2587-404_2834+310del
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter) rs1555459999
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) rs1304351755
NM_024675.4(PALB2):c.2686dup (p.Ser896fs) rs1555459954
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
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.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2834+2T>C rs864622481
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.3026del (p.Pro1009fs) rs180177131
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3114-3511_3201+191del
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3255dup (p.Arg1086fs) rs1966510490
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) rs180177134
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs) rs587776427
NM_024675.4(PALB2):c.3497del (p.Gly1166fs) rs180177138
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-1del rs1967113484
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.538G>T (p.Glu180Ter) rs750782778
NM_024675.4(PALB2):c.560del (p.Pro187fs) rs1967038226
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.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) rs1248579792
NM_024675.4(PALB2):c.756dup (p.Leu253fs) rs1967023691
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.759dup (p.Ser254fs) rs1967023129
NM_024675.4(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.839_840insT (p.Ile281fs) rs1967016153
NM_024675.4(PALB2):c.839del (p.Asn280fs) rs1555461597
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.956_962del (p.Ser318_Ser319insTer) rs587776409

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