ClinVar Miner

Variants in gene AP3B1 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: 6
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527

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