ClinVar Miner

List of variants reported as benign for autosomal recessive metabolic cerebellar ataxia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
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_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006

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