List of variants in gene CHEK2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)	rs77130927	0.00051
NM_007194.4(CHEK2):c.319+3966G>A	rs137926355	0.00040
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	rs121908702	0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	rs587780179	0.00014
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)	rs562517792	0.00008
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	rs121908705	0.00004
NM_007194.4(CHEK2):c.910A>G (p.Met304Val)	rs769436449	0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)	rs374395284	0.00004
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)	rs143611747	0.00003
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)	rs373073383	0.00002
NM_007194.4(CHEK2):c.1462-7C>G	rs730881707	0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)	rs781254437	0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)	rs587781379	0.00002
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu)	rs121908703	0.00001
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His)	rs199859140	0.00001
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr)	rs758206293	0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	rs540635787	0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)	rs730881695	0.00001
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser)	rs587782413	0.00001
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val)	rs786203483	0.00001
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile)	rs142243299	0.00001
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe)	rs765425451
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)	rs202089930
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.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])	rs587780181
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn)	rs768234137
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala)	rs1555926862
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg)	rs1569121455
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu)	rs587780193

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