ClinVar Miner

List of variants in gene CHEK2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 9
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HGVS dbSNP
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln) rs1555913081
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193

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