ClinVar Miner

List of variants in gene CHEK2 reported as likely benign by Mendelics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.592+50A>T rs17881298 0.00270
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NC_000022.11:g.28742014G>A rs187164042 0.00100
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.593-55G>A rs17879915 0.00004
NM_007194.3(CHEK2):c.-70A>T rs1264820873 0.00001
NM_007194.4(CHEK2):c.1290T>C (p.His430=) rs373864492 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.319+3851G>T rs1601841500
NM_007194.4(CHEK2):c.319+3980C>T rs1045958480
NM_007194.4(CHEK2):c.444+9T>C rs1437978013
NM_007194.4(CHEK2):c.592+50A>C rs17881298
NM_007194.4(CHEK2):c.593-2089T>C rs1012399282
NM_007194.4(CHEK2):c.593-2151A>T rs1411302770
NM_007194.4(CHEK2):c.593-2162_593-2156dup rs199835095
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951

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