List of variants in gene PDE6A reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)	rs121909835	0.00006
NM_000440.3(PDE6A):c.2275-1G>A	rs1428612396	0.00006
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)	rs373537826	0.00002
NM_000440.3(PDE6A):c.2T>C (p.Met1Thr)	rs943943635	0.00002
NM_000440.3(PDE6A):c.1113+1G>A	rs372346866	0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=)	rs727504072	0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)	rs144484128	0.00001
NM_000440.3(PDE6A):c.628-1G>C	rs753687039	0.00001
NC_000005.9:g.(?_149262972)_(149279107_?)dup
NC_000005.9:g.(?_149264323)_(149286961_?)dup
NM_000440.3(PDE6A):c.1065+2T>A	rs1554090012
NM_000440.3(PDE6A):c.1097del (p.Asp366fs)	rs1581186849
NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)
NM_000440.3(PDE6A):c.1263+1G>T	rs369896113
NM_000440.3(PDE6A):c.1361del (p.Val454fs)	rs1064797315
NM_000440.3(PDE6A):c.1474-1G>A
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)	rs776918069
NM_000440.3(PDE6A):c.1712_1715delinsACGTGGGGCAGA (p.Met571fs)	rs2113582262
NM_000440.3(PDE6A):c.1728+1G>A
NM_000440.3(PDE6A):c.1927-1G>T	rs1761074706
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)	rs773065850
NM_000440.3(PDE6A):c.1A>G (p.Met1Val)	rs976670244
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter)	rs1161389116
NM_000440.3(PDE6A):c.2135+1G>T	rs561600163
NM_000440.3(PDE6A):c.2136-3_2139del
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	rs754012367
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)	rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097
NM_000440.3(PDE6A):c.475-1G>T	rs1754135016
NM_000440.3(PDE6A):c.929_933+14del	rs2113640690
NM_000440.3(PDE6A):c.998+2T>G	rs1753505068
NM_000440.3(PDE6A):c.999-2A>G	rs1753232409

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