ClinVar Miner

List of variants reported as pathogenic for Hereditary cancer-predisposing syndrome by Mendelics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.426del (p.Met144fs) rs753723230 0.00004
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_002907.4(RECQL):c.120dup (p.Val41fs) rs745659712
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1539dup (p.Gly514fs) rs1567220784
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter) rs1567218690
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.3008del (p.Asn1003fs) rs1567213009
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) rs876659378
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) rs730881884
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) rs1567224232
NM_024675.4(PALB2):c.715del (p.Arg239fs) rs1567222476
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498

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