List of variants in gene GRIN2A reported as pathogenic by GeneDx

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp)	rs1360906241	0.00003
GRCh37/hg19 16p13.2(chr16:10031589-10051402)x1
GRCh37/hg19 16p13.2(chr16:9915837-9916457)x1
GRCh37/hg19 16p13.2(chr16:9923137-9923798)x1
NM_001134407.3(GRIN2A):c.1007+1G>A	rs397518465
NM_001134407.3(GRIN2A):c.1507C>T (p.Gln503Ter)	rs1555494699
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu)	rs267604688
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys)	rs747838255
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)	rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)	rs397518468
NM_001134407.3(GRIN2A):c.1825dup (p.Trp609fs)	rs1596471934
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln)	rs2141312803
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)	rs2042447540
NM_001134407.3(GRIN2A):c.1961T>G (p.Ile654Ser)	rs2042447540
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)	rs397518472
NM_001134407.3(GRIN2A):c.2054T>G (p.Val685Gly)	rs796052548
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr)	rs1555488144
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)	rs796052549
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)	rs1555488119
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)	rs752241086
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val)	rs796052551
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg)	rs1064796608
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs)	rs886041308
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)	rs1057524089
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs)	rs796052560

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