ClinVar Miner

List of variants reported as likely benign for autosomal recessive syndromic cerebellar ataxia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020680.4(SCYL1):c.877T>G (p.Phe293Val) rs143168314 0.00272
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys) rs76782506 0.00112
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185

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