ClinVar Miner

List of variants in gene ATP13A5 reported by Ambry Genetics

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_198505.4(ATP13A5):c.2242G>A (p.Asp748Asn) rs79270190 0.00051
NM_198505.4(ATP13A5):c.2964G>C (p.Gln988His) rs182661663 0.00040
NM_198505.4(ATP13A5):c.2086C>T (p.Arg696Cys) rs150495266 0.00033
NM_198505.4(ATP13A5):c.1451G>A (p.Cys484Tyr) rs141636662 0.00029
NM_198505.4(ATP13A5):c.836G>A (p.Arg279His) rs148990571 0.00019
NM_198505.4(ATP13A5):c.95G>A (p.Arg32Gln) rs200695101 0.00019
NM_198505.4(ATP13A5):c.1327C>A (p.Pro443Thr) rs372215216 0.00013
NM_198505.4(ATP13A5):c.2737G>A (p.Gly913Ser) rs200528703 0.00013
NM_198505.4(ATP13A5):c.1003A>G (p.Lys335Glu) rs201429261 0.00011
NM_198505.4(ATP13A5):c.598G>C (p.Val200Leu) rs374609371 0.00011
NM_198505.4(ATP13A5):c.2698G>A (p.Val900Ile) rs545966151 0.00009
NM_198505.4(ATP13A5):c.1102G>A (p.Val368Ile) rs370567338 0.00007
NM_198505.4(ATP13A5):c.1207G>A (p.Val403Met) rs147789936 0.00005
NM_198505.4(ATP13A5):c.1313T>A (p.Leu438His) rs767801283 0.00005
NM_198505.4(ATP13A5):c.2636C>T (p.Thr879Ile) rs760012300 0.00005
NM_198505.4(ATP13A5):c.2729C>T (p.Thr910Ile) rs147279605 0.00005
NM_198505.4(ATP13A5):c.743A>T (p.Gln248Leu) rs766985195 0.00005
NM_198505.4(ATP13A5):c.1273G>A (p.Val425Ile) rs144247133 0.00003
NM_198505.4(ATP13A5):c.2500C>A (p.Leu834Ile) rs372746599 0.00003
NM_198505.4(ATP13A5):c.688A>G (p.Ile230Val) rs376315892 0.00003
NM_198505.4(ATP13A5):c.977C>T (p.Pro326Leu) rs774978644 0.00003
NM_198505.4(ATP13A5):c.1189G>A (p.Asp397Asn) rs771136195 0.00001
NM_198505.4(ATP13A5):c.1447G>A (p.Val483Met) rs770785275 0.00001
NM_198505.4(ATP13A5):c.1621G>A (p.Gly541Arg) rs770194359 0.00001
NM_198505.4(ATP13A5):c.1809C>G (p.Ser603Arg) rs541864223 0.00001
NM_198505.4(ATP13A5):c.1825G>A (p.Val609Met) rs146244383 0.00001
NM_198505.4(ATP13A5):c.2174C>T (p.Thr725Met) rs777644226 0.00001
NM_198505.4(ATP13A5):c.2212C>G (p.Pro738Ala) rs1372027176 0.00001
NM_198505.4(ATP13A5):c.2287G>C (p.Val763Leu) rs1718952163 0.00001
NM_198505.4(ATP13A5):c.2295C>A (p.Asn765Lys) rs750412147 0.00001
NM_198505.4(ATP13A5):c.2309C>G (p.Pro770Arg) rs769813281 0.00001
NM_198505.4(ATP13A5):c.2356C>T (p.Arg786Cys) rs756017635 0.00001
NM_198505.4(ATP13A5):c.2357G>A (p.Arg786His) rs368258320 0.00001
NM_198505.4(ATP13A5):c.2453T>C (p.Val818Ala) rs1263174081 0.00001
NM_198505.4(ATP13A5):c.2855C>T (p.Ser952Leu) rs1395185671 0.00001
NM_198505.4(ATP13A5):c.361G>A (p.Ala121Thr) rs1274554055 0.00001
NM_198505.4(ATP13A5):c.482C>G (p.Ser161Cys) rs1328826300 0.00001
NM_198505.4(ATP13A5):c.706A>G (p.Ile236Val) rs1389822927 0.00001
NM_198505.4(ATP13A5):c.766G>A (p.Val256Met) rs779044454 0.00001
NM_198505.4(ATP13A5):c.83A>G (p.Asp28Gly) rs759282014 0.00001
NM_198505.4(ATP13A5):c.1078G>T (p.Gly360Trp) rs1711794145
NM_198505.4(ATP13A5):c.1097C>T (p.Ala366Val)
NM_198505.4(ATP13A5):c.115G>C (p.Ala39Pro) rs776380026
NM_198505.4(ATP13A5):c.1175T>G (p.Phe392Cys)
NM_198505.4(ATP13A5):c.1363G>A (p.Val455Met)
NM_198505.4(ATP13A5):c.139C>G (p.Leu47Val) rs1713152135
NM_198505.4(ATP13A5):c.1524C>G (p.Cys508Trp)
NM_198505.4(ATP13A5):c.1550C>T (p.Ser517Leu)
NM_198505.4(ATP13A5):c.1685A>G (p.Asp562Gly) rs2474032942
NM_198505.4(ATP13A5):c.1738C>T (p.Pro580Ser)
NM_198505.4(ATP13A5):c.1771G>T (p.Ala591Ser) rs374086408
NM_198505.4(ATP13A5):c.1972A>G (p.Ile658Val)
NM_198505.4(ATP13A5):c.1978C>T (p.Leu660Phe)
NM_198505.4(ATP13A5):c.2206A>T (p.Ile736Phe) rs2474019459
NM_198505.4(ATP13A5):c.2298A>T (p.Gln766His)
NM_198505.4(ATP13A5):c.2335A>G (p.Thr779Ala) rs145000399
NM_198505.4(ATP13A5):c.2348C>T (p.Ser783Leu)
NM_198505.4(ATP13A5):c.2357G>T (p.Arg786Leu)
NM_198505.4(ATP13A5):c.24C>A (p.Asp8Glu)
NM_198505.4(ATP13A5):c.2603C>T (p.Ser868Leu)
NM_198505.4(ATP13A5):c.2629C>A (p.Pro877Thr) rs762416120
NM_198505.4(ATP13A5):c.2687G>A (p.Arg896Gln)
NM_198505.4(ATP13A5):c.2707T>G (p.Phe903Val)
NM_198505.4(ATP13A5):c.281A>G (p.Tyr94Cys) rs2474089642
NM_198505.4(ATP13A5):c.2914C>G (p.Pro972Ala)
NM_198505.4(ATP13A5):c.2915C>T (p.Pro972Leu) rs2473982087
NM_198505.4(ATP13A5):c.2923C>T (p.Leu975Phe) rs1422356927
NM_198505.4(ATP13A5):c.2965A>T (p.Ile989Phe)
NM_198505.4(ATP13A5):c.2996C>G (p.Pro999Arg)
NM_198505.4(ATP13A5):c.309C>G (p.Ser103Arg)
NM_198505.4(ATP13A5):c.3182T>C (p.Ile1061Thr)
NM_198505.4(ATP13A5):c.3225C>A (p.Asn1075Lys)
NM_198505.4(ATP13A5):c.395T>C (p.Met132Thr)
NM_198505.4(ATP13A5):c.396G>T (p.Met132Ile) rs141207285
NM_198505.4(ATP13A5):c.434A>G (p.Glu145Gly) rs2474087523
NM_198505.4(ATP13A5):c.442T>C (p.Phe148Leu)
NM_198505.4(ATP13A5):c.540A>T (p.Arg180Ser) rs772876077
NM_198505.4(ATP13A5):c.621C>A (p.Phe207Leu) rs1330884579
NM_198505.4(ATP13A5):c.629T>C (p.Phe210Ser)
NM_198505.4(ATP13A5):c.675A>C (p.Glu225Asp) rs200019739
NM_198505.4(ATP13A5):c.700A>C (p.Thr234Pro)
NM_198505.4(ATP13A5):c.779A>G (p.Asn260Ser)
NM_198505.4(ATP13A5):c.919G>A (p.Val307Met)
NM_198505.4(ATP13A5):c.941C>T (p.Thr314Ile) rs1712222104
NM_198505.4(ATP13A5):c.981G>C (p.Gln327His)

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