ClinVar Miner

Variants in gene PDE6B with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu) rs150000610 0.00078
NM_000283.4(PDE6B):c.2193+15C>T rs376883350 0.00061
NM_000283.4(PDE6B):c.267C>T (p.Ala89=) rs147181781 0.00046
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) rs140224236 0.00009
NM_000283.4(PDE6B):c.1258-10T>A rs727504074 0.00007
NM_000283.4(PDE6B):c.142C>T (p.Arg48Trp) rs191195745 0.00006
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) rs574098823 0.00001

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