List of variants in gene CHEK2 reported as pathogenic for bone osteosarcoma

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)	rs17883862	0.00201
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	rs730881701	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	rs587780174
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	rs587781705
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	rs200917541
NM_007194.4(CHEK2):c.444+2T>C	rs560596101
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser)	rs137853008
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	rs536907995
NM_007194.4(CHEK2):c.593-1G>T	rs786203229

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