List of variants in gene GRIK2 studied for autosomal recessive non-syndromic intellectual disability

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile)	rs3213608	0.00266
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn)	rs767667188	0.00019
NM_021956.5(GRIK2):c.1628G>A (p.Arg543His)	rs141189363	0.00010
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)	rs56067702	0.00010
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser)	rs555425016	0.00004
NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile)	rs745663188	0.00002
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp)	rs745990822	0.00002
NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu)	rs560817419	0.00001
GRIK2, DEL/INV, EX7-11
NM_021956.5(GRIK2):c.1095+2T>A
NM_021956.5(GRIK2):c.1525A>C (p.Lys509Gln)	rs1786912135
NM_021956.5(GRIK2):c.1939A>T (p.Ile647Phe)
NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe)	rs1356066581
NM_021956.5(GRIK2):c.368A>G (p.Asn123Ser)
NM_021956.5(GRIK2):c.592C>T (p.Arg198Ter)	rs749995448
NM_021956.5(GRIK2):c.969G>A (p.Met323Ile)	rs1780549634

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