List of variants in gene ATP13A2 reported as likely pathogenic 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.477+2T>G	rs758014228	0.00009
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)	rs1264582344	0.00001
NM_022089.4(ATP13A2):c.1845+1G>A	rs2076970587	0.00001
NM_022089.4(ATP13A2):c.2529+1G>A	rs776448394	0.00001
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)	rs121918227
NM_022089.4(ATP13A2):c.1846-2A>G	rs2100783138
NM_022089.4(ATP13A2):c.2006-1G>C
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs)	rs2076942520
NM_022089.4(ATP13A2):c.2413-1G>C
NM_022089.4(ATP13A2):c.2763-4_2763-1del
NM_022089.4(ATP13A2):c.3083+2T>C	rs771581490
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)	rs1057519289
NM_022089.4(ATP13A2):c.348-9_351del	rs749798211
NM_022089.4(ATP13A2):c.557+1G>T
NM_022089.4(ATP13A2):c.558-1G>T	rs2077392348

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