List of variants in gene PMPCA reported as uncertain significance for Autosomal recessive spinocerebellar ataxia 2

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015160.3(PMPCA):c.258G>C (p.Gln86His)	rs141305380	0.00006
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met)	rs192764146	0.00001
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro)	rs769031961
NM_015160.3(PMPCA):c.1330G>A (p.Val444Met)
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)
NM_015160.3(PMPCA):c.897+6G>A	rs150776126

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