ClinVar Miner

List of variants studied for autosomal recessive spinocerebellar ataxia 2 by OMIM

Included ClinVar conditions (1):

Autosomal recessive spinocerebellar ataxia 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg)	rs869025293	0.00001
NM_015160.3(PMPCA):c.766G>A (p.Val256Met)	rs746549806	0.00001
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	rs753611141
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)	rs869025292

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