ClinVar Miner

List of variants reported as pathogenic for cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 by OMIM

Included ClinVar conditions (2):

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Total variants: 4

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HGVS	dbSNP
NG_012741.1:g.(?_5001)_(37693_?)del
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs)	rs398122380
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)	rs80338905
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe)	rs397514750

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