ClinVar Miner

List of variants in gene PALB2 reported as pathogenic by University of Washington Department of Laboratory Medicine, University of Washington

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Total variants: 15
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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.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.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.3202-?_*(1_?)del
NM_024675.4(PALB2):c.1163del (p.Pro388fs) rs869312772
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3186del (p.Ala1063fs) rs869312774
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092

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