ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy 94 by Revvity Omics, Revvity

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085 0.00016
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00006
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala) rs1442904433 0.00006
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466 0.00004
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.185G>A (p.Ser62Asn) rs886041165 0.00001
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser) rs768407397 0.00001
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val) rs909410576 0.00001
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=) rs773319032 0.00001
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195 0.00001
NM_001271.4(CHD2):c.2001-4del rs2505515613
NM_001271.4(CHD2):c.2345T>G (p.Ile782Ser) rs2505526631
NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs) rs2141851950
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys) rs2054200484
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg) rs2505599458
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala) rs2052525047
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp) rs745311012
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4289G>A (p.Gly1430Asp) rs2505607915
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp) rs776113114
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser) rs1596458229
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile) rs761860129
NM_001271.4(CHD2):c.5119C>G (p.Arg1707Gly) rs1468532398
NM_001271.4(CHD2):c.5155C>T (p.His1719Tyr) rs2505650591
NM_001271.4(CHD2):c.522A>C (p.Lys174Asn) rs573405690
NM_001271.4(CHD2):c.955A>G (p.Ser319Gly) rs2505447028

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