ClinVar Miner

List of variants in gene GRID2 reported as pathogenic for autosomal recessive spinocerebellar ataxia 18

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp) rs750331613 0.00002
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
NC_000004.11:g.(93511438_94006145)_(94032105_94128554)del
NC_000004.12:g.92491792_92826931del
NC_000004.12:g.92559959_92610106del
NC_000004.12:g.93013415_93157863del
NM_001510.3(GRID2):c.530-12057_735+24661del36924
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
NM_001510.4(GRID2):c.568C>T (p.Gln190Ter) rs1732687174
Single allele

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