List of variants in gene combination CHD2, LOC126862230 reported as uncertain significance for electroclinical syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NM_001271.4(CHD2):c.2877C>T (p.Asn959=)
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile)	rs2141846369
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile)	rs2053970198
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
NM_001271.4(CHD2):c.2973G>A (p.Gln991=)	rs903186613
NM_001271.4(CHD2):c.2974-3T>C	rs778558788
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)	rs2053978485
NM_001271.4(CHD2):c.3025G>T (p.Val1009Leu)	rs1064794528
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)	rs2053978897

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