ClinVar Miner

List of variants studied for cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 10
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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.1901G>A (p.Arg634His) rs35339834
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) rs397514750
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907

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