ClinVar Miner

List of variants in gene ATP7B reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.51+110G>A rs61958788 0.04081
NM_000053.4(ATP7B):c.2121+127C>A rs78021873 0.01692
NM_000053.4(ATP7B):c.4124+278T>A rs74404993 0.01455
NM_000053.4(ATP7B):c.1946+153T>C rs74087020 0.01334
NM_000053.4(ATP7B):c.2122-158G>A rs116947713 0.01200
NM_000053.4(ATP7B):c.1544-304C>T rs116389198 0.01191
NM_000053.4(ATP7B):c.1544-142A>G rs78699520 0.00964
NM_000053.4(ATP7B):c.3061-290G>C rs146828977 0.00765
NM_000053.4(ATP7B):c.3060+291A>T rs75816432 0.00729
NM_000053.4(ATP7B):c.2865+249G>A rs67645093 0.00666
NM_000053.4(ATP7B):c.3556+254A>G rs114578653 0.00594
NM_000053.4(ATP7B):c.2122-284del rs150368560 0.00591
NM_000053.4(ATP7B):c.3557-31G>T rs74085875 0.00585
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
NM_000053.4(ATP7B):c.4125-209C>G rs9591440 0.00490
NM_000053.4(ATP7B):c.1946+92G>A rs141924296 0.00487
NM_000053.4(ATP7B):c.1286-153C>T rs74087030 0.00443
NM_000053.4(ATP7B):c.3060+63A>T rs74085885 0.00433
NM_000053.4(ATP7B):c.4021+107G>A rs144518699 0.00426
NM_000053.4(ATP7B):c.2448-145G>A rs74085897 0.00414
NM_000053.4(ATP7B):c.4125-70A>G rs74085865 0.00407
NM_000053.4(ATP7B):c.3244-109C>T rs149218548 0.00401
NM_000053.4(ATP7B):c.3557-316A>G rs11841731 0.00401
NM_000053.4(ATP7B):c.*148C>T rs111901413 0.00362
NM_000053.4(ATP7B):c.2448-208G>A rs112688647 0.00362
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000053.4(ATP7B):c.2447+104G>T rs192166380 0.00182
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000053.4(ATP7B):c.3243+82C>T rs370019033 0.00144
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000053.4(ATP7B):c.*16G>A rs193922100 0.00105
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217 0.00076
NM_000053.4(ATP7B):c.1543+13C>T rs200171850 0.00062
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000053.4(ATP7B):c.2448-11G>A rs200450017 0.00034
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742 0.00019
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860 0.00016
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704 0.00013
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277 0.00006
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515 0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000053.4(ATP7B):c.4022-19C>T rs369736734 0.00006
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572 0.00006
NM_000053.4(ATP7B):c.2196C>T (p.Leu732=) rs201213995 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448 0.00004
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met) rs757716093 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411 0.00003
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466 0.00002
NM_000053.4(ATP7B):c.1215C>T (p.Pro405=) rs201020290 0.00002
NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=) rs142187604 0.00002
NM_000053.4(ATP7B):c.2866-21C>T rs763362019 0.00002
NM_000053.4(ATP7B):c.2979G>A (p.Thr993=) rs200656411 0.00002
NM_000053.4(ATP7B):c.1708-14A>G rs751612293 0.00001
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000053.4(ATP7B):c.2067T>C (p.Ile689=) rs1274947728 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410 0.00001
NM_000053.4(ATP7B):c.3556+20T>G rs765755993 0.00001
NM_000053.4(ATP7B):c.51+13C>T rs770273498 0.00001
NM_000053.4(ATP7B):c.1041C>T (p.Gly347=) rs1453094974
NM_000053.4(ATP7B):c.1428A>G (p.Ala476=) rs914451059
NM_000053.4(ATP7B):c.1544-263_1544-257del rs201291586
NM_000053.4(ATP7B):c.1707+98G>A rs77703666
NM_000053.4(ATP7B):c.1947-15G>T rs1555291926
NM_000053.4(ATP7B):c.2355+89A>G rs146708261
NM_000053.4(ATP7B):c.2576-30A>G rs2281814
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.3360G>A (p.Leu1120=) rs1555285820
NM_000053.4(ATP7B):c.3413-231C>T rs147443964
NM_000053.4(ATP7B):c.3660G>A (p.Thr1220=) rs1253901147
NM_000053.4(ATP7B):c.4021+122dup rs57778802
NM_000053.4(ATP7B):c.4125-19T>C rs1228043161
NM_000053.4(ATP7B):c.51+15C>G rs781757171
NM_000053.4(ATP7B):c.52-208_52-205del rs201539631

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