ClinVar Miner

List of variants studied for autosomal recessive spinocerebellar ataxia 18 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr) rs144455304 0.00125
NM_001510.4(GRID2):c.899G>A (p.Arg300His) rs201635818 0.00002
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala) rs2546697844
NM_001510.4:c.1246-278_2193+35240del
NM_001510.4:c.790-271_1245+268del

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