ClinVar Miner

List of variants studied for cerebellar degeneration by Institute of Human Genetics, Heidelberg University

Included ClinVar conditions (270):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519

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