ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter) rs572725483 0.00004
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_002907.4(RECQL):c.-45-1G>A rs756434860
NM_002907.4(RECQL):c.1099-2A>G rs1591973610
NM_002907.4(RECQL):c.215-20_223del rs1591988737
NM_002907.4(RECQL):c.292G>T (p.Glu98Ter) rs1010112210
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer) rs1565570957
NM_002907.4(RECQL):c.675_676insGATGTAG (p.Gln226fs) rs1591981391
NM_002907.4(RECQL):c.676delinsGATGTAGCATGT (p.Gln226fs) rs1565569139
NM_002907.4(RECQL):c.677_678insTGTA (p.Gln226fs) rs1591981379
NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs) rs1567218036
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859

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