ClinVar Miner

List of variants in gene CHD2 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2507G>A (p.Arg836His) rs1429832116 0.00001
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly) rs927604763 0.00001
NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del) rs2141811654
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys) rs2053619310
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala) rs1228076921
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val) rs2053935304
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr) rs2141861661
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val) rs1308763946
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) rs2054212444
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys) rs2141761439
NM_001271.4(CHD2):c.693-1G>A rs2053387699

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