List of variants reported as pathogenic for Retinitis pigmentosa 20

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	rs62653011	0.00008
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	rs61751282	0.00004
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	rs121917745	0.00003
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	rs121917744	0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	rs62637004	0.00002
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter)	rs1235881190	0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	rs61752895	0.00001
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	rs281865520
NM_000329.3(RPE65):c.1338+1G>A	rs1057518922
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	rs1571158279
NM_000329.3(RPE65):c.1443del (p.Asp482fs)	rs2100806806
NM_000329.3(RPE65):c.1451-1G>A	rs1317871521
NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)

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