ClinVar Miner

List of variants studied for disorder of copper metabolism by Inherited Neuropathy Consortium Ii, University Of Miami

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.1028dup (p.Tyr343Ter)
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.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.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1585G>T (p.Glu529Ter)
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.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.1818del (p.Lys607fs)
NM_000052.7(ATP7A):c.1856dup (p.His620fs)
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.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.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.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.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.2383C>A (p.Arg795=)
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2406+3A>T
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn) rs2077838704
NM_000052.7(ATP7A):c.2407-2A>G
NM_000052.7(ATP7A):c.2407-433A>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.2497A>G (p.Ser833Gly) rs2149096859
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.2770C>T (p.Gln924Ter)
NM_000052.7(ATP7A):c.2771A>G (p.Gln924Arg)
NM_000052.7(ATP7A):c.2781+1G>A
NM_000052.7(ATP7A):c.2781G>A (p.Lys927=)
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+2480T>G
NM_000052.7(ATP7A):c.2916+5G>A
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
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.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.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.3111+4A>C
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.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.3293A>C (p.Gln1098Pro)
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.3294+763C>G
NM_000052.7(ATP7A):c.3299T>C (p.Leu1100Pro)
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.3492del (p.Ile1165fs)
NM_000052.7(ATP7A):c.3511+1G>A
NM_000052.7(ATP7A):c.3511+5G>A
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.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.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.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.3911A>G (p.Asn1304Ser) rs151340632
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.3974C>T (p.Ala1325Val)
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.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.4352del (p.Gly1451fs) rs1569550376
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)

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