ClinVar Miner

List of variants in gene ATP7B reported by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter) rs780292767 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000053.4(ATP7B):c.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.372C>A (p.Ser124Arg) rs1489384071 0.00001
NM_000053.4(ATP7B):c.1397_1403del (p.Leu466fs)
NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)
NM_000053.4(ATP7B):c.1475del (p.Leu492fs)
NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)
NM_000053.4(ATP7B):c.1580del (p.Lys527fs)
NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter) rs1951683498
NM_000053.4(ATP7B):c.167dup (p.Val57fs)
NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter) rs1454088856
NM_000053.4(ATP7B):c.1727_1728del (p.Ala576fs)
NM_000053.4(ATP7B):c.1738del (p.His580fs)
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter) rs1951466736
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.218_219del (p.Val73fs)
NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter) rs1952035259
NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter) rs1952034577
NM_000053.4(ATP7B):c.2512_2513del (p.Lys838fs)
NM_000053.4(ATP7B):c.2673del (p.Asn892fs)
NM_000053.4(ATP7B):c.2687del (p.Leu896fs)
NM_000053.4(ATP7B):c.2885_2895del (p.Ser962fs)
NM_000053.4(ATP7B):c.2915_2916delinsA (p.Phe972fs)
NM_000053.4(ATP7B):c.2947_2950del (p.Cys983fs)
NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter) rs1957660801
NM_000053.4(ATP7B):c.2964del (p.Leu989fs)
NM_000053.4(ATP7B):c.3027_3028del (p.Lys1010fs)
NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter) rs1957512345
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter) rs1957506216
NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)
NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter) rs1957395448
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs)
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter) rs995516204
NM_000053.4(ATP7B):c.3583_3584del (p.Ala1195fs)
NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)
NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs)
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs)
NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs)
NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)
NM_000053.4(ATP7B):c.416dup (p.Ala140fs)
NM_000053.4(ATP7B):c.482_483delinsA (p.Ile161fs)
NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter) rs1952020122
NM_000053.4(ATP7B):c.531_535del (p.Leu178fs)
NM_000053.4(ATP7B):c.533_534del (p.Leu178fs)
NM_000053.4(ATP7B):c.590_591del (p.Leu197fs)
NM_000053.4(ATP7B):c.763dup (p.His255fs)
NM_000053.4(ATP7B):c.782_783del (p.Leu261fs)
NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter) rs577406734

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.