ClinVar Miner

List of variants in gene combination CHD2, LOC126862230 reported as likely benign for electroclinical syndrome

Included ClinVar conditions (101):
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Gene type:
ClinVar version:
Total variants: 24
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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.2974-16G>C rs990532473 0.00002
NM_001271.4(CHD2):c.2901G>A (p.Glu967=) rs755608958 0.00001
NM_001271.4(CHD2):c.2907A>G (p.Thr969=) rs2053970223 0.00001
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=) rs186862897 0.00001
NM_001271.4(CHD2):c.3066+8G>A rs376968734 0.00001
NM_001271.4(CHD2):c.2877-17A>G rs764609850
NM_001271.4(CHD2):c.2877-4A>G
NM_001271.4(CHD2):c.2877-5C>T rs1248829265
NM_001271.4(CHD2):c.2955G>C (p.Gly985=)
NM_001271.4(CHD2):c.2973+18_2973+23del
NM_001271.4(CHD2):c.2973+8A>T
NM_001271.4(CHD2):c.2973+9C>T rs1596431717
NM_001271.4(CHD2):c.2974-10G>A
NM_001271.4(CHD2):c.2974-4T>C
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.3000G>A (p.Arg1000=)
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=) rs2141847120
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=) rs768946382
NM_001271.4(CHD2):c.3066+19G>A
NM_001271.4(CHD2):c.3066+20A>G rs946119641

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