ClinVar Miner

List of variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 by OMIM

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
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.149G>A (p.Trp50Ter)
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) rs397514750
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_003383.5(VLDLR):c.820+1G>A
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)

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