ClinVar Miner

List of variants in gene EP400 reported by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015409.5(EP400):c.1120C>T (p.Gln374Ter)	rs2540896095
NM_015409.5(EP400):c.3883C>T (p.Arg1295Ter)	rs2136533705
NM_015409.5(EP400):c.6026C>T (p.Ala2009Val)	rs1418853123
NM_015409.5(EP400):c.6451-2A>G	rs2540982064

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