ClinVar Miner

List of variants in gene CHD2 reported by Diagnostic Laboratory, Strasbourg University Hospital

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.1044del (p.Lys349fs) rs2053407118
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.1940C>T (p.Thr647Ile) rs2053619599
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.4138-1G>A rs2054265721
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4349del (p.Gly1450fs) rs2141876542
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter) rs372786805
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter) rs1555439545

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