ClinVar Miner

List of variants studied for cerebellar disorder by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521

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