ClinVar Miner

List of variants studied for cerebellar ataxia by Laboratory of Genetics in Ophthalmology, Institut Imagine

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs) rs1788833484
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly) rs1787553194
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer) rs1787347907

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