ClinVar Miner

List of variants in gene CHD2 reported as uncertain significance for not specified

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=) rs565686460 0.00005
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_001271.4(CHD2):c.225C>G (p.Ser75=) rs144667627 0.00002
NM_001271.4(CHD2):c.2308C>A (p.Pro770Thr) rs1064794433 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
GRCh37/hg19 15q26.1(chr15:93275227-93499081)
NM_001271.4(CHD2):c.1052+3A>G rs1555439559
NM_001271.4(CHD2):c.1876G>T (p.Asp626Tyr) rs1057518462
NM_001271.4(CHD2):c.190T>A (p.Ser64Thr) rs2141746050
NM_001271.4(CHD2):c.2506-17G>A rs2141839109
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4265A>G (p.Asp1422Gly) rs1555444960
NM_001271.4(CHD2):c.5392G>A (p.Asp1798Asn) rs1057518463
NM_001271.4(CHD2):c.856A>G (p.Ile286Val) rs1457822140

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