ClinVar Miner

List of variants in gene PALB2 reported as pathogenic for Malignant tumor of breast

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 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.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) rs755263466 0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) rs587782005 0.00001
NC_000016.9:g.(23619334_23625324)_(23625413_23632682)del
NC_000016.9:g.(23634452_23635329)_(23635416_23637556)del
NC_000016.9:g.(23635416_23637556)_(23647656_23649170)del
NC_000016.9:g.(?_23614482)_(23619334_23625324)del
NC_000016.9:g.(?_23614482)_(23637719_23640524)del
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1163dup (p.Leu389fs) rs869312772
NM_024675.4(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2575del (p.Ser859fs) rs2142367858
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) rs730881868
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.514_517del (p.Ser172fs) rs1555461765
NM_024675.4(PALB2):c.654del (p.Asp219fs) rs587781697
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) rs587782531
NM_024675.4(PALB2):c.695del (p.Gly232fs) rs1060502769

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