ClinVar Miner

List of variants reported as likely pathogenic for Hereditary cancer-predisposing syndrome by Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000249.4(MLH1):c.768_769insCTCCA (p.Ile257fs)
NM_000249.4(MLH1):c.770_771insGTCC (p.Ile257fs)
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr) rs1554898129
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_032043.3(BRIP1):c.508-1G>C rs864622277

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