ClinVar Miner

List of variants reported as uncertain significance for cerebellar disorder by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
NM_001447.3(FAT2):c.9896C>T (p.Ser3299Phe) rs2127588750
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys) rs2137547970
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr) rs2137612456
NM_018896.5(CACNA1G):c.532G>A (p.Ala178Thr) rs2144657245
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) rs1660021291
NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly) rs1659738579
NM_152703.5(SAMD9L):c.3899T>G (p.Phe1300Cys) rs2116474947

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