ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance for not specified

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Total variants: 40
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HGVS dbSNP
NM_000053.4(ATP7B):c.-54G>T rs115564351
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)
NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val)
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_000053.4(ATP7B):c.1869+20A>G rs566255910
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1947-5T>C
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) rs1202766392
NM_000053.4(ATP7B):c.2448-11G>A rs200450017
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser)
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser) rs1566468882
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser)
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys)
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)
NM_000053.4(ATP7B):c.4290del (p.Ser1431fs) rs1555282185
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529

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