ClinVar Miner

Variants in gene ATP7A with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.1329del (p.Leu444fs) rs2149083474
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3801+4A>G rs797045387

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