List of variants reported as likely pathogenic for cerebellar ataxia by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	rs143010236	0.00008
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_001386140.1(MTTP):c.1868-2A>G	rs760547155	0.00001
NM_000784.4(CYP27A1):c.1477-2A>C	rs111570247
NM_001173990.3(TMEM216):c.35-13_36del	rs1057520085
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)	rs927804920
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)	rs768209419
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	rs1555251539

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