ClinVar Miner

List of variants reported as benign for autosomal dominant cerebellar ataxia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_002739.5(PRKCG):c.686+14G>T rs3745405 0.36258
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920

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