List of variants in gene RD3 studied for Leber congenital amaurosis 12

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP
NM_183059.2(RD3):c.112C>T (p.Arg38Ter)	rs786205148
NM_183059.2(RD3):c.136G>T (p.Glu46Ter)	rs786205150
NM_183059.2(RD3):c.137_138del (p.Glu46fs)	rs786205149
NM_183059.2(RD3):c.180C>A (p.Tyr60Ter)	rs762631020
NM_183059.2(RD3):c.202C>T (p.Arg68Trp)	rs144697496
NM_183059.2(RD3):c.296+1G>A	rs386834260
NM_183059.2(RD3):c.584A>T (p.Asp195Val)	rs143207434

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