ClinVar Miner

List of variants in gene POR reported as likely benign for Antley-Bixler syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000941.3(POR):c.*306G>A rs17685
NM_000941.3(POR):c.1248+12C>T rs2286822
NM_000941.3(POR):c.1508C>T (p.Ala503Val) rs1057868
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.3(POR):c.387A>G (p.Pro129=) rs1135612
NM_000941.3(POR):c.517-14_517-13del rs72557912

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