ClinVar Miner

List of variants in gene PALB2 studied for female reproductive organ cancer

Included ClinVar conditions (52):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) rs146218439 0.00008
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala) rs545119348 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.113C>T (p.Ala38Val) rs371875379 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg) rs767830005 0.00001
NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val) rs1249960937 0.00001
NM_024675.4(PALB2):c.828C>T (p.His276=) rs911713488 0.00001
NM_024675.4(PALB2):c.1751ATG[4] (p.Asp586dup) rs1555460665
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3437A>T (p.Gln1146Leu) rs587780219
NM_024675.4(PALB2):c.3483del (p.Phe1161fs) rs2142252781
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_024675.4(PALB2):c.933A>C (p.Lys311Asn)
NM_024675.4(PALB2):c.998C>A (p.Thr333Asn) rs1567221840

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