ClinVar Miner

List of variants in gene GRIK2 reported as pathogenic for neurodevelopmental disorder with impaired language and ataxia and with or without seizures

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) rs1790057505
NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys) rs1790058081
NM_021956.5(GRIK2):c.1979C>G (p.Thr660Arg) rs1790058081

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