List of variants reported as pathogenic for autosomal recessive disease by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	rs111033258	0.00016
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)	rs757696771	0.00006
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	rs387906980	0.00003
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)	rs199606180	0.00002
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	rs61750172	0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	rs61752895	0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	rs387907009	0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)	rs775769424	0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)	rs111033267	0.00001
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)	rs111033232
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	rs1571158279
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)	rs398123538
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	rs750962965

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