List of variants in gene CHEK2 reported as likely 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: 14

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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.1427C>T (p.Thr476Met)	rs142763740	0.00032
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.433C>T (p.Arg145Trp)	rs137853007	0.00005
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	rs371418985	0.00001
NM_007194.4(CHEK2):c.846+1G>C	rs864622149	0.00001
NM_007194.4(CHEK2):c.1008+2T>G	rs1555915295
NM_007194.4(CHEK2):c.1188del (p.Val397fs)	rs753159426
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs)	rs1569111699
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)	rs786203977
NM_007194.4(CHEK2):c.593-1G>T	rs786203229
NM_007194.4(CHEK2):c.941del (p.Val314fs)	rs1601738999

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