ClinVar Miner

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

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter) rs780292767 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.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

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