List of variants in gene ATP13A2 reported as pathogenic for Inborn genetic diseases

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	rs765632065	0.00007
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)	rs773246271	0.00003
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)	rs1303653650	0.00001
NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter)	rs373607247
NM_022089.4(ATP13A2):c.2487del (p.Phe830fs)	rs2523076978
NM_022089.4(ATP13A2):c.604del (p.His202fs)	rs758150853

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