ClinVar Miner

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

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Gene type:
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Total variants: 19
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NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703
NM_007194.4(CHEK2):c.1095+8A>G rs1057522814
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln) rs1555913081
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=) rs1060502721
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.231_245CCAAGAACCTGAGGA[1] (p.77_81DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.319+3966G>A rs137926355
NM_007194.4(CHEK2):c.320-5T>A rs121908700
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.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.686G>T (p.Gly229Val) rs778212685
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193

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