List of variants reported as pathogenic for cerebellar degeneration by Illumina Laboratory Services, Illumina

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Total variants: 11

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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.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)	rs553512431	0.00002
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	rs573951598	0.00001
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	rs587781831
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)	rs1591718522
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)	rs764847439
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_153816.6(SNX14):c.1878del (p.Lys626fs)
NM_153816.6(SNX14):c.2148+1G>T

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