ClinVar Miner

List of variants reported as likely pathogenic by Cancer Genomics Group,Japanese Foundation For Cancer Research

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Total variants: 26
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HGVS dbSNP
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.242dup (p.Asn81fs) rs1591451795
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3751+2T>C
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) rs1553619721
NM_000465.4(BARD1):c.518dup (p.Ser174fs) rs1574821103
NM_001042492.3(NF1):c.768del (p.Phe256fs) rs1597659830
NM_001351834.2(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_002878.3(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.3(RAD51D):c.385C>T (p.Gln129Ter) rs1597862732
NM_002907.4(RECQL):c.1548dup (p.Asp517Ter)
NM_005732.4(RAD50):c.1635dup (p.Ala546fs)
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) rs1601715865
NM_020937.4(FANCM):c.2201_2202dup (p.Glu735fs) rs762570903
NM_020937.4(FANCM):c.2525_2528del (p.Gln842fs)
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) rs1597096243
NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter) rs786203714
NM_032043.2(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.918+2T>C rs1603346587
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) rs1598449660
NM_133629.3(RAD51D):c.145-593del

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