ClinVar Miner

List of variants in gene ATP7B reported as likely pathogenic by Invitae

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000053.4(ATP7B):c.1285+2T>A rs759749626 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn) rs181388674 0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2575+1G>C rs766149114 0.00001
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) rs775553302 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509 0.00001
NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu) rs1957397703 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val) rs1956914257 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 0.00001
NM_000053.4(ATP7B):c.52-1G>T rs1057517351 0.00001
NC_000013.10:g.(?_52511412)_(52513329_?)del
NC_000013.10:g.(?_52544712)_(52545071_?)del
NC_000013.11:g.(?_51937256)_(51939213_?)del
NM_000053.4(ATP7B):c.1286-1G>T rs2139975355
NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile) rs2139962593
NM_000053.4(ATP7B):c.1544-1G>A rs1951686649
NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) rs375071383
NM_000053.4(ATP7B):c.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1707+1G>A rs377001615
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
NM_000053.4(ATP7B):c.1869+1G>A
NM_000053.4(ATP7B):c.1946+1G>A
NM_000053.4(ATP7B):c.1946+1del rs1958764803
NM_000053.4(ATP7B):c.1947-1G>C rs1405260211
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2108G>T (p.Cys703Phe)
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) rs1394999756
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu) rs2139545313
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
NM_000053.4(ATP7B):c.2185A>G (p.Met729Val)
NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu) rs774769813
NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg) rs776668666
NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg) rs1057516844
NM_000053.4(ATP7B):c.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2356-2A>G rs2139505830
NM_000053.4(ATP7B):c.2485G>C (p.Asp829His)
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)
NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg)
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly)
NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala) rs2139220914
NM_000053.4(ATP7B):c.2576-2A>G rs757265256
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile)
NM_000053.4(ATP7B):c.2680A>G (p.Thr894Ala)
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2730+2T>A rs2139201007
NM_000053.4(ATP7B):c.2730+2T>C rs2139201007
NM_000053.4(ATP7B):c.2762G>T (p.Ser921Ile)
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del) rs1228359983
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2906G>C (p.Arg969Pro) rs121907996
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe) rs778163447
NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe)
NM_000053.4(ATP7B):c.2963G>T (p.Gly988Val)
NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala) rs1476409946
NM_000053.4(ATP7B):c.2986A>G (p.Met996Val)
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3053C>A (p.Ala1018Glu)
NM_000053.4(ATP7B):c.3061-3C>A
NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val)
NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp)
NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro)
NM_000053.4(ATP7B):c.3206A>T (p.His1069Leu)
NM_000053.4(ATP7B):c.3243+2T>C rs1593671769
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg)
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)
NM_000053.4(ATP7B):c.3304A>T (p.Ile1102Phe) rs2138854011
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3413-20C>G
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala) rs2138787759
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3532A>C (p.Thr1178Pro)
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3557-1G>A
NM_000053.4(ATP7B):c.3557-1G>C rs2138674428
NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val) rs2138671758
NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu) rs200911496
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile) rs121907990
NM_000053.4(ATP7B):c.3815C>A (p.Ser1272Tyr)
NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala) rs1257330000
NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)
NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) rs1555283732
NM_000053.4(ATP7B):c.3938T>C (p.Leu1313Pro)
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) rs2138561490
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) rs1305262063
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.4124+5G>A rs1321980462
NM_000053.4(ATP7B):c.52-1G>A

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