ClinVar Miner

List of variants in gene ATP7A reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.4226+48A>G rs17218310 0.01515
NM_000052.7(ATP7A):c.120+194A>G rs139196328 0.00889
NM_000052.7(ATP7A):c.1544-155G>T rs111544036 0.00886
NM_000052.7(ATP7A):c.1708-264C>A rs113529215 0.00865
NM_000052.7(ATP7A):c.2498+113A>G rs181240427 0.00831
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_000052.7(ATP7A):c.2406+164A>T rs192353701 0.00702
NM_000052.7(ATP7A):c.3294+605C>G rs147306552 0.00647
NM_000052.7(ATP7A):c.3802-302A>G rs188655939 0.00635
NM_000052.7(ATP7A):c.3294+907C>T rs139339244 0.00521
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000052.7(ATP7A):c.2627-202C>T rs150538110 0.00476
NM_000052.7(ATP7A):c.2498+121A>G rs185690492 0.00475
NM_000052.7(ATP7A):c.3111+266G>A rs143063698 0.00399
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_000052.7(ATP7A):c.2172+117C>G rs782456456 0.00030
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552 0.00014
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376 0.00013
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met) rs149523862 0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433 0.00006
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493 0.00005
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser) rs782505393 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=) rs1557235088 0.00001
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555 0.00001
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NC_000023.11:g.77910214G>C
NC_000023.11:g.77910249G>A
NM_000052.7(ATP7A):c.*310del rs200579535
NM_000052.7(ATP7A):c.*40C>G rs148698322
NM_000052.7(ATP7A):c.1083A>C (p.Ser361=)
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1543+240dup rs782274914
NM_000052.7(ATP7A):c.1544-273AC[24] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[25] rs781808445
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1947-65G>A rs142953341
NM_000052.7(ATP7A):c.2173-269dup rs782360257
NM_000052.7(ATP7A):c.3659-257G>C rs138431566
NM_000052.7(ATP7A):c.3802-21_3802-11dup rs782271446
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) rs369114635
NM_000052.7(ATP7A):c.4029A>C (p.Ala1343=) rs1603391248
NM_000052.7(ATP7A):c.4123+241dup rs781972709
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.610+108G>A rs148390231

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.