ClinVar Miner

List of variants in gene ATP13A2 reported by Eurofins NTD LLC (GA)

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_022089.4(ATP13A2):c.841-4A>G rs112549590 0.00090
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) rs55943100 0.00013
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=) rs568367953 0.00004
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=) rs762440899 0.00001
NM_022089.4(ATP13A2):c.1237C>T (p.His413Tyr) rs1553168739
NM_022089.4(ATP13A2):c.2981G>A (p.Gly994Glu) rs764808827
NM_022089.4(ATP13A2):c.3084-10G>A rs368908107
NM_022089.4(ATP13A2):c.348-9_351del rs749798211

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