ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_004056.6(CA8):c.710G>A (p.Arg237Gln) rs387906598 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
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)
NM_004056.6(CA8):c.298T>C (p.Ser100Pro) rs267606695
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) rs546968533
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
NM_016529.6(ATP8A2):c.1580-18C>G
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570

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