ClinVar Miner

List of variants studied for cerebellar disorder by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) rs141491316 0.00010
NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=) rs140513521 0.00004
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)
NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)

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