ClinVar Miner

List of variants reported as pathogenic for Hereditary cancer-predisposing syndrome by True Health Diagnostics

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_004656.4(BAP1):c.1717del (p.Leu573fs) rs869025212
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1G>A rs80358150

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