List of variants in gene CHEK2 reported as likely pathogenic for bone sarcoma

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	rs587782471	0.00003
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)	rs72552322	0.00001
NM_007194.4(CHEK2):c.1006del (p.Gln336fs)
NM_007194.4(CHEK2):c.1008+2T>G	rs1555915295
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)	rs1231012263
NM_007194.4(CHEK2):c.1518del (p.Ala507fs)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	rs1349961118
NM_007194.4(CHEK2):c.593-2A>C
NM_007194.4(CHEK2):c.684-2A>G	rs2053419665
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	rs786201896
NM_007194.4(CHEK2):c.793-1G>A	rs730881687
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007194.4(CHEK2):c.909-2A>G	rs1555915589

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