List of variants in gene CHEK2 reported as pathogenic by Mendelics

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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: 8

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HGVS	dbSNP	gnomAD frequency
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.592+3A>T	rs587782849	0.00001
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)	rs2052563898
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	rs536907995
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)	rs1346554630
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)	rs768973809

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