ClinVar Miner

List of variants in gene LOC126860792, PMPCA studied for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (51):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015160.3(PMPCA):c.633+17G>A rs142661443 0.00062
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln) rs758146224 0.00011
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln) rs573267388 0.00010
NM_015160.3(PMPCA):c.766G>A (p.Val256Met) rs746549806 0.00001
NM_015160.3(PMPCA):c.634-266T>G rs755207442
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)
NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)

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