ClinVar Miner

List of variants reported as benign for cerebellar degeneration by GeneReviews

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32] rs60726084

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