List of variants in gene PDE6C reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_006204.4(PDE6C):c.792G>A (p.Ala264=)	rs375235184	0.00034
NM_006204.4(PDE6C):c.1979C>G (p.Thr660Arg)	rs767703174	0.00006
NM_006204.4(PDE6C):c.1956C>A (p.Asn652Lys)	rs370842108	0.00003
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys)	rs777275171	0.00002
NM_006204.4(PDE6C):c.548C>T (p.Pro183Leu)	rs753424342	0.00001
NM_006204.4(PDE6C):c.1659del (p.Tyr556fs)
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter)	rs781699886
NM_006204.4(PDE6C):c.1756del (p.Tyr586fs)
NM_006204.4(PDE6C):c.1775C>G (p.Ala592Gly)
NM_006204.4(PDE6C):c.2005A>G (p.Ile669Val)
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn)	rs1064797148
NM_006204.4(PDE6C):c.2144T>A (p.Met715Lys)
NM_006204.4(PDE6C):c.2367+1_2367+5del	rs796051871
NM_006204.4(PDE6C):c.2389G>A (p.Glu797Lys)
NM_006204.4(PDE6C):c.2389_2391del (p.Glu797del)
NM_006204.4(PDE6C):c.2489dup (p.Gln833fs)
NM_006204.4(PDE6C):c.2498AAG[1] (p.Glu834del)	rs757524417
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp)	rs375795507
NM_006204.4(PDE6C):c.634-1G>C

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