ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.2997T>G (p.Leu999=) rs12018992 0.01764
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp) rs142815547 0.00218
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_177438.3(DICER1):c.4014G>A (p.Ala1338=) rs143454689 0.00099
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr) rs149242330 0.00074
NM_177438.3(DICER1):c.2040+29T>C rs370866625 0.00015
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00013
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_177438.3(DICER1):c.4740G>T (p.Gln1580His) rs369465519 0.00003
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_177438.3(DICER1):c.184G>A (p.Val62Ile) rs746671039 0.00002
NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp) rs587778229 0.00002
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly) rs139536688 0.00002
NM_000059.4(BRCA2):c.4968A>G (p.Thr1656=) rs1060504597 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942 0.00001
NM_177438.3(DICER1):c.255C>G (p.Ile85Met) rs763422772 0.00001
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys) rs549532374 0.00001
NM_177438.3(DICER1):c.5330T>A (p.Leu1777His) rs780545199 0.00001
NM_177438.3(DICER1):c.884C>G (p.Ser295Cys) rs548231008 0.00001
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1863T>C (p.His621=) rs786201460
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_177438.3(DICER1):c.1410G>A (p.Glu470=) rs774271782
NM_177438.3(DICER1):c.2040+54dup rs141723381
NM_177438.3(DICER1):c.2830C>A (p.Arg944=) rs137852978
NM_177438.3(DICER1):c.3328A>G (p.Ile1110Val) rs1566769439
NM_177438.3(DICER1):c.3649T>A (p.Tyr1217Asn) rs1891127892
NM_177438.3(DICER1):c.4420A>G (p.Thr1474Ala) rs1890354220
NM_177438.3(DICER1):c.4806C>T (p.Ala1602=) rs1890302137
NM_177438.3(DICER1):c.5133T>G (p.Ile1711Met) rs1890097799

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