ClinVar Miner

List of variants reported as pathogenic for cerebellar disorder by Codex Genetics Limited

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs) rs318240735
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_182961.4(SYNE1):c.[20263C>T;8889del]

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