ClinVar Miner

List of variants in gene ATP7A reported as uncertain significance for Menkes kinky-hair syndrome

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Gene type:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 0.00005
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540 0.00005
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly) rs1557232788 0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924 0.00003
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe) rs1189381967 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) rs1557231845 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866 0.00002
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn) rs1374099672 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277 0.00002
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547 0.00001
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala) rs1227094533 0.00001
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly) rs368355216 0.00001
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466 0.00001
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461 0.00001
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His) rs2234936 0.00001
NM_000052.7(ATP7A):c.238C>T (p.Pro80Ser) rs781951786 0.00001
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) rs1557234931 0.00001
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg) rs1557235625 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val) rs371409820 0.00001
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456 0.00001
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile) rs962646396 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) rs2078077936 0.00001
NM_000052.7(ATP7A):c.4213C>T (p.Leu1405Phe) rs2078077967 0.00001
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) rs368091927 0.00001
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His) rs1204475767 0.00001
NM_000052.7(ATP7A):c.488A>G (p.His163Arg) rs1164298315 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro) rs1557231656 0.00001
NM_000052.7(ATP7A):c.1028dup (p.Tyr343Ter)
NM_000052.7(ATP7A):c.1056G>C (p.Glu352Asp)
NM_000052.7(ATP7A):c.1135del (p.Thr379fs)
NM_000052.7(ATP7A):c.1139_1140del (p.Val380fs)
NM_000052.7(ATP7A):c.1189_1192del (p.Gly397fs)
NM_000052.7(ATP7A):c.120+7T>C rs2149073895
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1234del (p.Ala413fs)
NM_000052.7(ATP7A):c.1329del (p.Leu444fs) rs2149083474
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1585G>T (p.Glu529Ter)
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1707+1G>A rs1569549753
NM_000052.7(ATP7A):c.1707+4A>G
NM_000052.7(ATP7A):c.1707+5G>A
NM_000052.7(ATP7A):c.1708-1G>C
NM_000052.7(ATP7A):c.1734C>A (p.Cys578Ter)
NM_000052.7(ATP7A):c.1747G>C (p.Glu583Gln)
NM_000052.7(ATP7A):c.1748_1749del (p.Glu583fs)
NM_000052.7(ATP7A):c.1770_1771del (p.Gly591fs)
NM_000052.7(ATP7A):c.1780dup (p.Tyr594fs)
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr) rs2149093552
NM_000052.7(ATP7A):c.1818del (p.Lys607fs)
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.1856dup (p.His620fs)
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1870-2A>T
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1883A>T (p.Glu628Val)
NM_000052.7(ATP7A):c.1884dup (p.Ala629fs)
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1898A>G (p.Lys633Arg)
NM_000052.7(ATP7A):c.1903G>C (p.Asp635His)
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1936G>T (p.Glu646Ter)
NM_000052.7(ATP7A):c.1946+1G>A
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+1G>T rs797045340
NM_000052.7(ATP7A):c.1946+2T>C
NM_000052.7(ATP7A):c.1946+4A>G
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1946+5G>C
NM_000052.7(ATP7A):c.1946+6T>G
NM_000052.7(ATP7A):c.1947-1G>T
NM_000052.7(ATP7A):c.1947-3_1948dup
NM_000052.7(ATP7A):c.1949G>A (p.Trp650Ter)
NM_000052.7(ATP7A):c.1958C>A (p.Ser653Tyr)
NM_000052.7(ATP7A):c.1958C>T (p.Ser653Phe)
NM_000052.7(ATP7A):c.1971T>A (p.Ser657Arg)
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
NM_000052.7(ATP7A):c.2056_2059del (p.Gln685_Asn686insTer)
NM_000052.7(ATP7A):c.2057del (p.Asn686fs)
NM_000052.7(ATP7A):c.2059A>G (p.Met687Val)
NM_000052.7(ATP7A):c.2068G>T (p.Glu690Ter)
NM_000052.7(ATP7A):c.2117T>G (p.Leu706Arg)
NM_000052.7(ATP7A):c.2153T>A (p.Leu718Ter)
NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg)
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) rs1569549892
NM_000052.7(ATP7A):c.2159del (p.Cys720fs)
NM_000052.7(ATP7A):c.2170C>T (p.Gln724Ter)
NM_000052.7(ATP7A):c.2171A>C (p.Gln724Pro)
NM_000052.7(ATP7A):c.2172+1G>A
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172+5_2172+19del
NM_000052.7(ATP7A):c.2172+6T>G
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2173-1G>C
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2206dup (p.Tyr736fs)
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.2281T>C (p.Ser761Pro)
NM_000052.7(ATP7A):c.2284_2285del (p.Leu762fs)
NM_000052.7(ATP7A):c.2314_2317del (p.Arg772fs)
NM_000052.7(ATP7A):c.2337_2350del (p.Phe780fs)
NM_000052.7(ATP7A):c.2347dup (p.Thr783fs)
NM_000052.7(ATP7A):c.2354dup (p.Met786fs)
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu) rs781834675
NM_000052.7(ATP7A):c.2383C>A (p.Arg795=)
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2406+6G>A rs782307719
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn) rs2077838704
NM_000052.7(ATP7A):c.2407-2A>G
NM_000052.7(ATP7A):c.2440T>C (p.Ser814Pro)
NM_000052.7(ATP7A):c.2446C>T (p.Gln816Ter)
NM_000052.7(ATP7A):c.2473_2474del (p.Thr824_Leu825insTer)
NM_000052.7(ATP7A):c.2498+1G>A
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2508del (p.Val837fs)
NM_000052.7(ATP7A):c.2518G>T (p.Glu840Ter)
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2557G>A (p.Gly853Arg)
NM_000052.7(ATP7A):c.2557G>C (p.Gly853Arg)
NM_000052.7(ATP7A):c.2579G>T (p.Gly860Val)
NM_000052.7(ATP7A):c.2609A>G (p.Asp870Gly)
NM_000052.7(ATP7A):c.2612_2613del (p.Glu871fs)
NM_000052.7(ATP7A):c.2618T>G (p.Leu873Arg)
NM_000052.7(ATP7A):c.2626+1G>A
NM_000052.7(ATP7A):c.2626+2T>A
NM_000052.7(ATP7A):c.2626G>C (p.Gly876Arg)
NM_000052.7(ATP7A):c.2627-2A>G
NM_000052.7(ATP7A):c.2627G>A (p.Gly876Glu)
NM_000052.7(ATP7A):c.2686C>T (p.Gln896Ter)
NM_000052.7(ATP7A):c.2743C>T (p.Gln915Ter)
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln) rs2149099719
NM_000052.7(ATP7A):c.2770C>T (p.Gln924Ter)
NM_000052.7(ATP7A):c.2781+1G>A
NM_000052.7(ATP7A):c.2781G>A (p.Lys927=)
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter) rs67273048
NM_000052.7(ATP7A):c.2888del (p.Asn963fs)
NM_000052.7(ATP7A):c.2916+1G>A
NM_000052.7(ATP7A):c.2916+5G>A
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2938del (p.Arg980fs)
NM_000052.7(ATP7A):c.2944G>T (p.Glu982Ter)
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.2971del (p.Ala991fs)
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.2998T>C (p.Cys1000Arg)
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3005G>T (p.Cys1002Phe)
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg) rs1569550143
NM_000052.7(ATP7A):c.3017T>C (p.Leu1006Pro)
NM_000052.7(ATP7A):c.3020C>T (p.Ala1007Val)
NM_000052.7(ATP7A):c.3040dup (p.Val1014fs)
NM_000052.7(ATP7A):c.3043G>A (p.Gly1015Ser)
NM_000052.7(ATP7A):c.3044G>A (p.Gly1015Asp)
NM_000052.7(ATP7A):c.3045del (p.Thr1016fs)
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser) rs2077968146
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3065del (p.Asn1022fs)
NM_000052.7(ATP7A):c.3073_3074insAT (p.Leu1025fs)
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3112-2A>C
NM_000052.7(ATP7A):c.3112-2A>G
NM_000052.7(ATP7A):c.3131A>G (p.Asp1044Gly)
NM_000052.7(ATP7A):c.3143C>T (p.Thr1048Ile)
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln) rs142998552
NM_000052.7(ATP7A):c.3241G>T (p.Glu1081Ter)
NM_000052.7(ATP7A):c.3244dup (p.Ser1082fs)
NM_000052.7(ATP7A):c.3257del (p.His1086fs)
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
NM_000052.7(ATP7A):c.3293_3294del (p.Gln1098fs)
NM_000052.7(ATP7A):c.3294+1G>C
NM_000052.7(ATP7A):c.3294+2T>C
NM_000052.7(ATP7A):c.3299T>C (p.Leu1100Pro)
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) rs2149107157
NM_000052.7(ATP7A):c.3352G>A (p.Gly1118Ser)
NM_000052.7(ATP7A):c.3353G>A (p.Gly1118Asp)
NM_000052.7(ATP7A):c.3445del (p.Gln1149fs)
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3492del (p.Ile1165fs)
NM_000052.7(ATP7A):c.3511+1G>A
NM_000052.7(ATP7A):c.3511+8A>C rs2149107265
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) rs2149109587
NM_000052.7(ATP7A):c.3681del (p.Ile1228fs)
NM_000052.7(ATP7A):c.3693_3694del (p.Val1232fs)
NM_000052.7(ATP7A):c.3705del (p.Ala1236fs)
NM_000052.7(ATP7A):c.3763G>A (p.Gly1255Arg)
NM_000052.7(ATP7A):c.3775A>T (p.Lys1259Ter)
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3792del (p.Ile1264fs)
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3801+3A>C
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala)
NM_000052.7(ATP7A):c.3836C>T (p.Pro1279Leu)
NM_000052.7(ATP7A):c.3844A>G (p.Lys1282Glu)
NM_000052.7(ATP7A):c.3862C>T (p.Gln1288Ter)
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3882del (p.Lys1294fs)
NM_000052.7(ATP7A):c.3899G>A (p.Gly1300Glu)
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) rs1557238588
NM_000052.7(ATP7A):c.3904G>A (p.Gly1302Arg)
NM_000052.7(ATP7A):c.3905G>A (p.Gly1302Glu)
NM_000052.7(ATP7A):c.3905G>T (p.Gly1302Val)
NM_000052.7(ATP7A):c.3912T>A (p.Asn1304Lys)
NM_000052.7(ATP7A):c.3914A>C (p.Asp1305Ala)
NM_000052.7(ATP7A):c.3914A>G (p.Asp1305Gly)
NM_000052.7(ATP7A):c.3923C>A (p.Ala1308Asp)
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
NM_000052.7(ATP7A):c.3974C>T (p.Ala1325Val)
NM_000052.7(ATP7A):c.3980A>G (p.Glu1327Gly) rs2149111854
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4005+1del
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-2A>G
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4030_4031insTGCCA (p.Ser1344fs)
NM_000052.7(ATP7A):c.4032_4033delinsAT (p.Ser1344_Ile1345delinsArgPhe)
NM_000052.7(ATP7A):c.4057_4058dup (p.Ile1355fs)
NM_000052.7(ATP7A):c.4085C>A (p.Ala1362Asp)
NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val) rs2149112273
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) rs1569549587
NM_000052.7(ATP7A):c.4105G>A (p.Gly1369Arg)
NM_000052.7(ATP7A):c.4117G>C (p.Ala1373Pro)
NM_000052.7(ATP7A):c.4118C>T (p.Ala1373Val)
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4123+3A>T rs2149112301
NM_000052.7(ATP7A):c.4123+5G>A
NM_000052.7(ATP7A):c.4124-538A>G rs2149113261
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4167del (p.Ser1390fs)
NM_000052.7(ATP7A):c.4177A>G (p.Met1393Val)
NM_000052.7(ATP7A):c.4178T>C (p.Met1393Thr)
NM_000052.7(ATP7A):c.4190C>T (p.Ser1397Phe) rs2149113551
NM_000052.7(ATP7A):c.4198_4199del (p.Val1400fs)
NM_000052.7(ATP7A):c.4210_4226+19del
NM_000052.7(ATP7A):c.4226+1G>A
NM_000052.7(ATP7A):c.4226+2T>C
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.4226+6T>C
NM_000052.7(ATP7A):c.4238C>G (p.Pro1413Arg)
NM_000052.7(ATP7A):c.4261C>T (p.Pro1421Ser) rs2149113961
NM_000052.7(ATP7A):c.463A>T (p.Lys155Ter)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.521del (p.Lys174fs)
NM_000052.7(ATP7A):c.526_529dup (p.Val177fs)
NM_000052.7(ATP7A):c.532G>T (p.Glu178Ter)
NM_000052.7(ATP7A):c.589C>T (p.Gln197Ter)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.659_663del (p.Ile220fs)
NM_000052.7(ATP7A):c.659_666del (p.Ile220fs)
NM_000052.7(ATP7A):c.693del (p.Met232fs)
NM_000052.7(ATP7A):c.721C>T (p.Gln241Ter)
NM_000052.7(ATP7A):c.890del (p.Ser297fs)
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln) rs2077548318
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu) rs2077548355

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