ClinVar Miner

List of variants in gene ATP13A2 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 93
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HGVS dbSNP gnomAD frequency
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.1614C>T (p.Pro538=) rs56351817 0.00324
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00195
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309 0.00108
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_022089.4(ATP13A2):c.3207G>A (p.Ala1069=) rs137877665 0.00031
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771 0.00025
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg) rs113643181 0.00025
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464 0.00023
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 0.00021
NM_022089.4(ATP13A2):c.2685G>A (p.Leu895=) rs138437271 0.00020
NM_022089.4(ATP13A2):c.2592C>T (p.Cys864=) rs777472886 0.00016
NM_022089.4(ATP13A2):c.3327G>A (p.Arg1109=) rs112261486 0.00015
NM_022089.4(ATP13A2):c.106-5C>T rs117838709 0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) rs55943100 0.00013
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser) rs758675397 0.00012
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) rs752619582 0.00012
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) rs536306337 0.00011
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys) rs148534162 0.00011
NM_022089.4(ATP13A2):c.2655C>T (p.Ala885=) rs371975975 0.00011
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) rs370421723 0.00011
NM_022089.4(ATP13A2):c.588C>T (p.Asp196=) rs147384248 0.00009
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754 0.00007
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His) rs544885605 0.00007
NM_022089.4(ATP13A2):c.528C>T (p.Ile176=) rs371992028 0.00007
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val) rs147260398 0.00006
NM_022089.4(ATP13A2):c.153C>T (p.His51=) rs759666274 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) rs745954026 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.1341C>T (p.Leu447=) rs1032082452 0.00002
NM_022089.4(ATP13A2):c.1704C>T (p.Pro568=) rs200868484 0.00002
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val) rs543531903 0.00002
NM_022089.4(ATP13A2):c.2271G>A (p.Ala757=) rs777302964 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 0.00002
NM_022089.4(ATP13A2):c.2634C>T (p.Asp878=) rs556418739 0.00002
NM_022089.4(ATP13A2):c.777C>T (p.Tyr259=) rs780133367 0.00002
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1563C>T (p.Asp521=) rs777948791 0.00001
NM_022089.4(ATP13A2):c.1710C>T (p.Gly570=) rs1049938065 0.00001
NM_022089.4(ATP13A2):c.1857G>A (p.Pro619=) rs1187762774 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.2061C>T (p.Val687=) rs370622481 0.00001
NM_022089.4(ATP13A2):c.2221A>C (p.Arg741=) rs754926284 0.00001
NM_022089.4(ATP13A2):c.2673C>T (p.Val891=) rs764639673 0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) rs764162255 0.00001
NM_022089.4(ATP13A2):c.435G>A (p.Thr145=) rs201154350 0.00001
NM_022089.4(ATP13A2):c.648C>T (p.Tyr216=) rs769405638 0.00001
NM_022089.4(ATP13A2):c.786C>T (p.Cys262=) rs1237741171 0.00001
NM_022089.4(ATP13A2):c.126C>G (p.Gly42=)
NM_022089.4(ATP13A2):c.1461A>G (p.Arg487=)
NM_022089.4(ATP13A2):c.1662A>T (p.Ala554=) rs1269279941
NM_022089.4(ATP13A2):c.1688G>T (p.Arg563Leu)
NM_022089.4(ATP13A2):c.1922T>C (p.Val641Ala)
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.1956C>T (p.Tyr652=)
NM_022089.4(ATP13A2):c.1983A>G (p.Ala661=)
NM_022089.4(ATP13A2):c.2118A>G (p.Gln706=)
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2235C>T (p.Arg745=)
NM_022089.4(ATP13A2):c.2303C>G (p.Ala768Gly)
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile) rs56170027
NM_022089.4(ATP13A2):c.2742G>A (p.Glu914=) rs146234171
NM_022089.4(ATP13A2):c.2841C>T (p.Ser947=)
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.3183G>A (p.Leu1061=)
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser) rs145674970
NM_022089.4(ATP13A2):c.336C>T (p.Ile112=)
NM_022089.4(ATP13A2):c.3426C>G (p.Leu1142=)
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3519G>A (p.Pro1173=)
NM_022089.4(ATP13A2):c.3537G>A (p.Leu1179=)
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
NM_022089.4(ATP13A2):c.60G>A (p.Thr20=)

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