ClinVar Miner

List of variants studied for autosomal recessive spinocerebellar ataxia 18

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001510.4(GRID2):c.1251T>G (p.Gly417=) rs1385405 0.72183
NM_001510.4(GRID2):c.899G>A (p.Arg300His) rs201635818 0.00003
NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp) rs750331613 0.00002
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) rs368143665 0.00001
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
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.-62C>T
NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)
NM_001510.4(GRID2):c.1100G>A (p.Arg367His)
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr) rs1728640535
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly) rs752073311
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
NM_001510.4(GRID2):c.568C>T (p.Gln190Ter) rs1732687174
NM_001510.4(GRID2):c.735+21G>C rs2271385
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter) rs1579319300
NM_001510.4:c.1246-278_2193+35240del
NM_001510.4:c.790-271_1245+268del
Single allele

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