List of variants reported as not provided for autosomal recessive metabolic cerebellar ataxia by GeneReviews

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Total variants: 22

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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_000370.3(TTPA):c.575G>A (p.Arg192His)	rs121917850	0.00010
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	rs143010236	0.00008
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00004
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00002
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	rs397515522	0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	rs397515524	0.00001
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)	rs397515523
NM_000370.3(TTPA):c.205-1G>T	rs886040963
NM_000370.3(TTPA):c.303T>G (p.His101Gln)	rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)	rs397515525
NM_000370.3(TTPA):c.552+2T>A	rs886040964
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)	rs397515526
NM_000370.3(TTPA):c.744del (p.Glu249fs)	rs397515377
NM_000784.4(CYP27A1):c.355del (p.Arg119fs)	rs587778793
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)	rs1560621495
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)	rs199422222
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)	rs767833468
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)	rs199422221

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