ClinVar Miner

List of variants studied for cerebellar degeneration by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) rs2101995572
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) rs2101995530
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) rs2101995228
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile) rs2145360047
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) rs1555558553
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_021814.5(ELOVL5):c.246+3859C>G
NM_024411.5(PDYN):c.630C>G (p.Phe210Leu)

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