ClinVar Miner

Variants in gene AIPL1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283

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