List of variants in gene combination ATP13A2, LOC129929540 reported as uncertain significance 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)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.-99G>C	rs569658051	0.00001
NM_022089.4(ATP13A2):c.-171G>C	rs1350517492
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg)	rs1557729552
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys)	rs2101432066

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