ClinVar Miner

List of variants in gene ATP13A2 reported as benign by Mayo Clinic Laboratories, Mayo Clinic

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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.3236-30C>T rs2076605 0.41680
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.3144C>G (p.Thr1048=) rs56126202 0.03553
NM_022089.4(ATP13A2):c.2762+29G>A rs141447403 0.01020
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.00974
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227

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