ClinVar Miner

List of variants reported as uncertain significance for cerebellar disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
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_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
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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