ClinVar Miner

List of variants reported as likely pathogenic by Cancer Variant Interpretation Group UK, Institute of Cancer Research, London

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro) rs55647716
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7786G>C (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu) rs1064795140
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7807G>C (p.Ala2603Pro) rs730881560
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly) rs80359010
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7888A>C (p.Lys2630Gln) rs1380792392
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.4(BRCA2):c.8174G>T (p.Trp2725Leu) rs730881581
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) rs80359080
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu) rs1566253139
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9226G>C (p.Gly3076Arg) rs1566253644
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly) rs63750327
NM_000314.8(PTEN):c.200T>G (p.Ile67Arg)
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) rs1554890348
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) rs1860618095
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) rs879253942
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_007294.4(BRCA1):c.442-22_442-13del rs879254224
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly) rs1555579627
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) rs80357212

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