ClinVar Miner

List of variants studied for cerebellar degeneration by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_018896.5(CACNA1G):c.866G>A (p.Arg289His)
NM_020944.3(GBA2):c.1444A>C (p.Asn482His) rs1826525053

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