ClinVar Miner

List of variants reported as likely pathogenic by Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_000059.4(BRCA2):c.3G>T (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_177438.3(DICER1):c.2407G>A (p.Gly803Arg) rs1891645525
NM_177438.3(DICER1):c.2414T>C (p.Leu805Pro) rs1891644496
NM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter) rs1595380836
NM_177438.3(DICER1):c.2461C>T (p.Arg821Cys) rs1891611876
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe) rs387906934
NM_177438.3(DICER1):c.2535_2539delinsAATCAACTTCAAGCATT (p.Thr847delinsAsnPheLysHisSer) rs1891601794
NM_177438.3(DICER1):c.2642T>C (p.Leu881Pro) rs1595380007
NM_177438.3(DICER1):c.2966_2967del (p.Asp989fs) rs1891391668
NM_177438.3(DICER1):c.4031C>T (p.Ser1344Leu) rs1566766572
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.4889G>T (p.Arg1630Leu) rs368343829
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.3(DICER1):c.5221_5232del (p.Asn1741_Ile1744del) rs1890082420
NM_177438.3(DICER1):c.5364+1187T>G rs1889954831
NM_177438.3(DICER1):c.5365-4A>G
NM_177438.3(DICER1):c.5426_5442delinsCA (p.Gly1809_Ser1814delinsAla) rs1889805083
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr) rs1889802883
NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.3(DICER1):c.5527+3A>G rs1595313951
NM_177438.3(DICER1):c.5604-1G>A rs1889714810
NM_177438.3(DICER1):c.5656G>A (p.Gly1886Arg) rs1566744851
NM_177438.3(DICER1):c.5729G>A (p.Arg1910Gln) rs1555365979
NM_177438.3(DICER1):c.735-1_741delinsA rs886037731

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