ClinVar Miner

List of variants in gene PALB2 studied for Fanconi anemia complementation group N

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_024675.3(PALB2):c.-158G>C rs138200248 0.00631
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_024675.4(PALB2):c.*232G>T rs180748355 0.00141
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
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.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) rs778309339 0.00004
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.1599T>C (p.Thr533=) rs786201088 0.00002
NM_024675.4(PALB2):c.1767G>A (p.Thr589=) rs769849072 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_024675.4(PALB2):c.-149G>A rs886051832 0.00001
NM_024675.4(PALB2):c.-37C>T rs1403573232 0.00001
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) rs587781824 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.2277A>G (p.Gln759=) rs786202524 0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) rs786203608 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) rs533814557 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) rs786204248 0.00001
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu) rs1417779335 0.00001
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr) rs746872839 0.00001
NM_024675.4(PALB2):c.3350+11A>G rs515726114 0.00001
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=) rs1282821765 0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275 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.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr) rs757567654 0.00001
NM_024675.4(PALB2):c.828C>T (p.His276=) rs911713488 0.00001
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NG_007406.1:g.(5249_8228)_(17155_19960)del
NM_024675.4(PALB2):c.-108C>A rs180177140
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) rs587780817
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg) rs867817029
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.1684+11A>G rs201368043
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr) rs876659058
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr) rs925044785
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) rs1833331932
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.2667T>A (p.Thr889=) rs876659224
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2835-2A>G
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe) rs876659160
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.2996+14T>G rs1407045774
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_024675.4(PALB2):c.3114-16_3114-11del rs2142300433
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) rs781049663
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) rs180177134
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu) rs772480747
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=) rs1966403904
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.388C>T (p.His130Tyr) rs1555461809
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) rs1060502796
NM_024675.4(PALB2):c.66A>G (p.Ala22=) rs1057520982
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro) rs886051831
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.