ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 10
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HGVS dbSNP
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1135_1136TC[2] (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.683+1G>T rs786203650

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