ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (253):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393 0.00010
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) rs766140596 0.00001
NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) rs1555687655
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) rs375098002
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697

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