List of variants in gene PDE6A reported by Eurofins NTD LLC (GA)

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.331A>C (p.Arg111=)	rs2277925	0.21963
NM_000440.3(PDE6A):c.465C>T (p.Asn155=)	rs2277926	0.18879
NM_000440.3(PDE6A):c.998+11C>T	rs75319698	0.01758
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)	rs78775072	0.01647
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)	rs17711594	0.00665
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)	rs61733363	0.00596
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)	rs142259966	0.00445
NM_000440.3(PDE6A):c.933+4C>T	rs12109444	0.00393
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)	rs114973968	0.00309
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)	rs148938083	0.00069
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)	rs147010346	0.00045
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)	rs145107955	0.00038
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	rs139444207	0.00015
NM_000440.3(PDE6A):c.594G>A (p.Val198=)	rs398123394	0.00013
NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser)	rs185588836	0.00004
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met)	rs771965437	0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	rs146591309	0.00004
NM_000440.3(PDE6A):c.85C>T (p.Arg29Trp)	rs201025404	0.00003
NM_000440.3(PDE6A):c.713G>A (p.Gly238Asp)	rs572067661	0.00002
NM_000440.3(PDE6A):c.1407G>C (p.Leu469Phe)	rs727504073	0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=)	rs727504072	0.00001
NM_000440.3(PDE6A):c.1730C>T (p.Thr577Met)	rs765007196	0.00001
NM_000440.3(PDE6A):c.2183G>A (p.Trp728Ter)	rs1561679951	0.00001
NM_000440.3(PDE6A):c.1728+4T>C	rs794727089
NM_000440.3(PDE6A):c.1926+1G>A	rs794727139
NM_000440.3(PDE6A):c.2027+5G>A	rs794727166
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097

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