List of variants reported as pathogenic for autosomal recessive metabolic cerebellar ataxia by Myriad Genetics, Inc.

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	rs397515379	0.00010
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000784.4(CYP27A1):c.845-1G>A	rs397515353	0.00004
NM_000784.4(CYP27A1):c.1263+1G>A	rs397515355	0.00003
NM_000370.3(TTPA):c.205-1G>C	rs886040963	0.00001
NM_000370.3(TTPA):c.744del (p.Glu249fs)	rs397515377

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