List of variants reported as pathogenic for cerebellar ataxia by Counsyl

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)	rs146064714	0.00004
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	rs281865118	0.00002
NM_000784.4(CYP27A1):c.446+1G>A	rs587778797	0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	rs281865120	0.00001
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)	rs587778812
NM_000784.4(CYP27A1):c.844+1G>A	rs397515354
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)	rs1400601705
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)	rs1057517311
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)	rs1485209013
NM_014363.6(SACS):c.6172del (p.Ser2058fs)	rs1214399996
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)	rs766711286
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)	rs1175545518
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043

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