ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) rs387906238
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg) rs80338844
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) rs1060502353
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929

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