ClinVar Miner

List of variants reported as likely pathogenic for cerebellar degeneration by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_018075.5(ANO10):c.139+1G>T rs777450156 0.00003
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001163809.2(WDR81):c.5411G>T (p.Gly1804Val)
NM_001163809.2(WDR81):c.5672T>C (p.Ile1891Thr)
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001378452.1(ITPR1):c.7301C>T (p.Thr2434Ile)
NM_001378452.1(ITPR1):c.7345A>G (p.Ile2449Val)
NM_001378452.1(ITPR1):c.823G>A (p.Ala275Thr)
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
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_001386140.1(MTTP):c.1344+2T>A
NM_001386140.1(MTTP):c.61+2T>C
NM_003383.5(VLDLR):c.1962+1G>A rs2130801524
NM_005861.4(STUB1):c.3G>T (p.Met1Ile)
NM_014053.4(FLVCR1):c.1058C>T (p.Thr353Met)
NM_015215.4(CAMTA1):c.4618-1G>A
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) rs771224190
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_033109.5(PNPT1):c.2014-3C>G rs748445058
NM_182961.4(SYNE1):c.18972+1G>T

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