List of variants in gene PDE6B reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln)	rs113842820	0.02573
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala)	rs28414606	0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=)	rs28510278	0.02567
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)	rs115775983	0.00911
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)	rs62295357	0.00465
NM_000283.4(PDE6B):c.270C>T (p.Asp90=)	rs80344633	0.00422
NM_000283.4(PDE6B):c.1060-13G>A	rs147482093	0.00365
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)	rs79826315	0.00091
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu)	rs150000610	0.00078
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His)	rs777999727	0.00010
NM_000283.4(PDE6B):c.2129+8C>T	rs764138476	0.00004
NM_000283.4(PDE6B):c.1507G>C (p.Glu503Gln)	rs758303497

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