ClinVar Miner

List of variants studied for cerebellar degeneration by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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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
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_004977.3(KCNC3):c.315G>C (p.Thr105=) rs368049323 0.00104
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872

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