List of variants in gene ATP13A2 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=)	rs2076603	0.54695
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=)	rs761421	0.41714
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)	rs3170740	0.41019
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=)	rs9435659	0.40884
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=)	rs9435662	0.40757
NM_022089.4(ATP13A2):c.3084-3C>T	rs7531163	0.23688
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=)	rs3738815	0.20463
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=)	rs56290406	0.04044
NM_022089.4(ATP13A2):c.3235+17G>A	rs56146840	0.02453
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)	rs56367069	0.01203
NM_022089.4(ATP13A2):c.1195+10G>A	rs55689004	0.00585
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)	rs55979991	0.00505
NM_022089.4(ATP13A2):c.*120A>T	rs41273151	0.00406
NM_022089.4(ATP13A2):c.3235+44_3235+55del	rs143483351

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