ClinVar Miner

List of variants in gene PALB2 reported as uncertain significance for Fanconi anemia complementation group N

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.23641315C>G rs138200248 0.00631
NM_024675.4(PALB2):c.*232G>T rs180748355 0.00141
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
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.2228A>G (p.Tyr743Cys) rs141749524 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.2277A>G (p.Gln759=) rs786202524 0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) rs786203608 0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) rs533814557 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.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
NM_024675.4(PALB2):c.-108C>A rs180177140
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg) rs867817029
NM_024675.4(PALB2):c.1684+11A>G rs201368043
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.2667T>A (p.Thr889=) rs876659224
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe) rs876659160
NM_024675.4(PALB2):c.2996+14T>G rs1407045774
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) rs781049663
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.388C>T (p.His130Tyr) rs1555461809
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

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