ClinVar Miner

List of variants reported as likely benign for cerebellar disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057 0.00320
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_004977.3(KCNC3):c.315G>C (p.Thr105=) rs368049323 0.00104
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002

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