ClinVar Miner

List of variants reported as likely pathogenic for cerebellar disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_153816.6(SNX14):c.2746-2A>G

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