ClinVar Miner

List of variants reported as pathogenic for Hereditary cancer-predisposing syndrome by Genomic Center, National Cancer Institute

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.10220del (p.Asn3407fs) rs2137667759
NM_000059.4(BRCA2):c.1037del (p.Asn346fs) rs2137467012
NM_000059.4(BRCA2):c.18del (p.Glu7fs) rs80359298
NM_000059.4(BRCA2):c.2617del (p.Lys872_Ile873insTer) rs398122748
NM_000059.4(BRCA2):c.2893del (p.Lys964_Met965insTer) rs2137490962
NM_000059.4(BRCA2):c.35_36del (p.Phe11_Phe12insTer) rs80359393
NM_000059.4(BRCA2):c.3648del (p.Phe1216fs) rs2072485514
NM_000059.4(BRCA2):c.3708del (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.4031del (p.Asn1344fs) rs1405264241
NM_000059.4(BRCA2):c.4948del (p.Ser1650fs) rs80359474
NM_000059.4(BRCA2):c.5153del (p.Asn1718fs) rs2137514441
NM_000059.4(BRCA2):c.6791del (p.Leu2264fs) rs2137530688
NM_000059.4(BRCA2):c.7534del (p.Ala2513fs) rs2137562694
NM_000059.4(BRCA2):c.9491del (p.Asn3164fs) rs2137654501
NM_000059.4(BRCA2):c.966del (p.Lys322_Val323insTer) rs1566222463
NM_007294.4(BRCA1):c.3101del (p.Asn1034fs) rs2154342570
NM_007294.4(BRCA1):c.3970del (p.Gln1323_Met1324insTer) rs587782834
NM_007294.4(BRCA1):c.922del (p.Ser308fs) rs2154485304

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