ClinVar Miner

Variants in gene ATP7B with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.3(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.3(ATP7B):c.1947-4C>T rs74904335
NM_000053.3(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.3(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.3(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.3(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.3(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317

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