ClinVar Miner

List of variants reported as likely pathogenic by CZECANCA consortium

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000251.2(MSH2):c.2459-2_2472del
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000314.8(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000535.7(PMS2):c.1144+250_2175-1948del
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002878.4(RAD51D):c.345+2T>C rs876659394
NM_004629.2(FANCG):c.778-2A>C rs2131056131
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2046del (p.Val683fs)
NM_005732.4(RAD50):c.2524+1_2524+9del
NM_005732.4(RAD50):c.2922+1G>A rs1581004749
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410

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