List of variants in gene GRIN2A reported as pathogenic by Génétique des Maladies du Développement, Hospices Civils de Lyon

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000016.9:g.(9923509_9927662)_(9928452_9934503)dup
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs)	rs2043685576
NM_001134407.3(GRIN2A):c.1123-2A>T
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2169-1G>C	rs2141231277
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys)	rs1903138230
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs)	rs2050242587

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