List of variants reported as likely pathogenic for autosomal recessive metabolic cerebellar ataxia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14

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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_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	rs200883871	0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)	rs1725952378	0.00001
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
NM_000370.3(TTPA):c.339del (p.Val114fs)	rs1563363293
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)	rs758739930
NM_000784.4(CYP27A1):c.58del (p.Leu20fs)	rs2106479076
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)	rs1560614646

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