ClinVar Miner

Variants in gene POR 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: 11
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001395413.1(POR):c.78G>A (p.Thr26=) rs41295381 0.00681
NM_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_001395413.1(POR):c.1889+13G>T rs72557956 0.00178
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_001395413.1(POR):c.735C>T (p.Tyr245=) rs201786397 0.00021
NM_001395413.1(POR):c.1182G>A (p.Ser394=) rs72557928

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