ClinVar Miner

List of variants in gene CHD2 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln) rs373039868 0.00004
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro) rs760099829 0.00003
NM_001271.4(CHD2):c.596G>A (p.Arg199His) rs367550855 0.00003
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln) rs762950368 0.00002
NM_001271.4(CHD2):c.11A>G (p.Asn4Ser) rs2052524504 0.00001
NM_001271.4(CHD2):c.1582C>G (p.His528Asp) rs776364124 0.00001
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile) rs1359060187 0.00001
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys) rs1567148426 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.2740C>T (p.Arg914Cys) rs1488275340 0.00001
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu) rs1295966448 0.00001
NM_001271.4(CHD2):c.5414A>G (p.His1805Arg) rs1287619700 0.00001
NM_001271.4(CHD2):c.663G>C (p.Gln221His) rs776917899 0.00001
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
NM_001271.4(CHD2):c.1997A>G (p.Glu666Gly)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2155G>A (p.Val719Met)
NM_001271.4(CHD2):c.2156T>C (p.Val719Ala)
NM_001271.4(CHD2):c.2506-4A>G rs1259027522
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val) rs2141843246
NM_001271.4(CHD2):c.3250G>A (p.Asp1084Asn)
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr) rs2054197453
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln) rs751507887
NM_001271.4(CHD2):c.4052A>G (p.Lys1351Arg) rs1444955768
NM_001271.4(CHD2):c.4298A>G (p.Lys1433Arg)
NM_001271.4(CHD2):c.4360G>A (p.Val1454Ile)
NM_001271.4(CHD2):c.4480A>G (p.Asn1494Asp) rs1567162493
NM_001271.4(CHD2):c.4593-3del rs1270315601
NM_001271.4(CHD2):c.4683AGA[2] (p.Glu1565del) rs1567163725
NM_001271.4(CHD2):c.4804C>G (p.His1602Asp)
NM_001271.4(CHD2):c.4990C>G (p.Gln1664Glu) rs1057522158
NM_001271.4(CHD2):c.5023T>C (p.Tyr1675His)
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg) rs770784804
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln) rs1240488615
NM_001271.4(CHD2):c.5444A>G (p.Gln1815Arg) rs770556699
NM_001271.4(CHD2):c.5466C>A (p.Asn1822Lys)
NM_001271.4(CHD2):c.667C>G (p.Arg223Gly) rs200830337
NM_001271.4(CHD2):c.674G>A (p.Arg225Lys) rs1304008714
NM_001271.4(CHD2):c.706G>A (p.Asp236Asn) rs2053387778
NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr) rs2141787468
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro) rs138279266
NM_001271.4(CHD2):c.946T>A (p.Tyr316Asn)

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