ClinVar Miner

List of variants in gene GRM1 studied for Spinocerebellar ataxia 44

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_001278064.2(GRM1):c.1165A>C (p.Asn389His) rs769064791 0.00007
NM_001278064.2(GRM1):c.3236C>T (p.Pro1079Leu) rs145216301 0.00001
NM_001278064.2(GRM1):c.3405C>G (p.Ser1135Arg) rs1188689970 0.00001
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278064.2(GRM1):c.2867A>T (p.Asn956Ile) rs1212150882
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs) rs1554317158
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys) rs1554274719
NM_001278064.2(GRM1):c.851C>T (p.Ala284Val) rs1448466753

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