ClinVar Miner

List of variants in gene CHD2 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu) rs1295966448 0.00001
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His) rs1427359303
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr) rs2054514484
NM_001271.4(CHD2):c.692+10A>G rs370469675

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