List of variants reported as pathogenic for Retinitis pigmentosa 49

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)	rs759781200	0.00010
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)	rs199636364	0.00006
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	rs199584830	0.00005
NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter)	rs1237954156	0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	rs749012133	0.00004
NM_001379270.1(CNGA1):c.1525G>A (p.Gly509Arg)	rs544588016	0.00001
NM_000087.3(CNGA1):c.[652C>T];[959C>T]
NM_001379270.1(CNGA1):c.1417del (p.Val473fs)
NM_001379270.1(CNGA1):c.179del (p.Gly60fs)	rs527236058
NM_001379270.1(CNGA1):c.1960del (p.Arg654fs)
NM_001379270.1(CNGA1):c.219del (p.Gln74fs)
NM_001379270.1(CNGA1):c.226G>T (p.Glu76Ter)	rs121909599
NM_001379270.1(CNGA1):c.415A>T (p.Lys139Ter)	rs121909600
NM_001379270.1(CNGA1):c.610G>A (p.Asp204Asn)
NM_001379270.1(CNGA1):c.614_615del (p.Ile205fs)
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	rs62625014

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