ClinVar Miner

List of variants in gene C19orf12 reported as pathogenic for Hereditary spastic paraplegia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)	rs200133991	0.00002
NM_031448.6(C19orf12):c.166del	rs398122409

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