ClinVar Miner

List of variants in gene combination ATP13A2, LOC129929540 reported as likely benign for Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)	rs549839037	0.00122
NM_022089.4(ATP13A2):c.10+13T>C
NM_022089.4(ATP13A2):c.10+14C>T

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