ClinVar Miner

List of variants in gene CHD2, LOC126862230 studied for developmental and epileptic encephalopathy 94

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2973+4A>G rs202244266 0.00093
NM_001271.4(CHD2):c.2877-15A>G rs374737708 0.00017
NM_001271.4(CHD2):c.3012G>A (p.Thr1004=) rs775751349 0.00004
NM_001271.4(CHD2):c.2907A>G (p.Thr969=) rs2053970223 0.00002
NM_001271.4(CHD2):c.2974-16G>C rs990532473 0.00002
NM_001271.4(CHD2):c.2877-4A>G rs2053970013 0.00001
NM_001271.4(CHD2):c.2877C>T (p.Asn959=) rs780541496 0.00001
NM_001271.4(CHD2):c.2901G>A (p.Glu967=) rs755608958 0.00001
NM_001271.4(CHD2):c.2932G>T (p.Asp978Tyr) rs779702501 0.00001
NM_001271.4(CHD2):c.2949G>A (p.Leu983=) rs749002158 0.00001
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=) rs186862897 0.00001
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NM_001271.4(CHD2):c.2877-15A>T
NM_001271.4(CHD2):c.2877-17A>G rs764609850
NM_001271.4(CHD2):c.2877-5C>T rs1248829265
NM_001271.4(CHD2):c.2882del (p.Asn961fs) rs2505549900
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr) rs2505549906
NM_001271.4(CHD2):c.2888_2889insAT (p.Phe963fs) rs2141846356
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys) rs2505549924
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile) rs2141846369
NM_001271.4(CHD2):c.2899dup (p.Glu967fs) rs2505549946
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile) rs2053970198
NM_001271.4(CHD2):c.2922T>C (p.Phe974=)
NM_001271.4(CHD2):c.2930A>G (p.Glu977Gly)
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly) rs2505549995
NM_001271.4(CHD2):c.2955G>C (p.Gly985=) rs768439257
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser) rs2505550024
NM_001271.4(CHD2):c.2973+18_2973+23del rs2505550082
NM_001271.4(CHD2):c.2973+6T>C
NM_001271.4(CHD2):c.2973+8A>T rs2505550047
NM_001271.4(CHD2):c.2973+9C>T rs1596431717
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.2974-10G>A rs1304866648
NM_001271.4(CHD2):c.2974-3T>C rs778558788
NM_001271.4(CHD2):c.2974-4T>C rs2141847081
NM_001271.4(CHD2):c.2977A>G (p.Met993Val) rs2053978485
NM_001271.4(CHD2):c.2982T>C (p.Asp994=) rs372974686
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp) rs758134774
NM_001271.4(CHD2):c.2999G>A (p.Arg1000Gln) rs777710376
NM_001271.4(CHD2):c.3000G>A (p.Arg1000=) rs746975258
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer) rs1064796496
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=) rs2141847120
NM_001271.4(CHD2):c.3025G>T (p.Val1009Leu) rs1064794528
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala) rs2053978897
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=) rs768946382
NM_001271.4(CHD2):c.3063T>C (p.Phe1021=)
NM_001271.4(CHD2):c.3063dup (p.Lys1022Ter) rs2505551595
NM_001271.4(CHD2):c.3066+19G>A rs933928277
NM_001271.4(CHD2):c.3066+20A>G rs946119641
NM_001271.4(CHD2):c.3066+8G>A rs376968734

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