List of variants in gene CRB1 reported as benign for pigmented paravenous retinochoroidal atrophy

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.1410A>G (p.Leu470=)	rs3902057	0.92528
NM_201253.3(CRB1):c.849-35T>C	rs1337167	0.82735
NM_201253.3(CRB1):c.2677-493A>G	rs7534863	0.41382
NM_201253.3(CRB1):c.71-12A>T	rs12042179	0.33853
NM_201253.3(CRB1):c.849-62T>G	rs1572514	0.24628
NM_201253.3(CRB1):c.*28T>C	rs41302107	0.07060
NM_201253.3(CRB1):c.2128+15A>C	rs75691013	0.01643
NM_201253.3(CRB1):c.2677-8C>T	rs73071678	0.00970
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)	rs59691602	0.00655
NM_201253.3(CRB1):c.*393T>C	rs147966959	0.00373
NM_201253.3(CRB1):c.600A>G (p.Thr200=)	rs77713666	0.00254
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)	rs62636287	0.00208
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)	rs151104285	0.00143
NM_201253.3(CRB1):c.2843-13C>T	rs199808176	0.00109
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	rs144436610	0.00104
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	rs62636285	0.00078
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)	rs116246250	0.00067
NM_201253.3(CRB1):c.3750-3T>C	rs187937543	0.00063
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)	rs142224492	0.00051
NM_201253.3(CRB1):c.3878+15A>T	rs200217112	0.00046
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)	rs142090517	0.00045
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)	rs140428156	0.00036
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)	rs200379694	0.00035
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)	rs62636282	0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	rs150412614	0.00025
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)	rs144011428	0.00014
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)	rs780576185	0.00005
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)	rs201949837	0.00002
NM_201253.3(CRB1):c.1172-12A>G	rs146175509	0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	rs750442312	0.00001
NM_201253.3(CRB1):c.989-53T>G	rs2786098

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