List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis 5 by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	rs386833980	0.00004
NM_006493.4(CLN5):c.522dup (p.Trp175fs)	rs386833979	0.00003
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)	rs386833971	0.00002
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	rs587780315
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	rs786204644
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)	rs764790770
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)	rs386833983
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	rs200348035
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)	rs386833964
NM_006493.4(CLN5):c.936del (p.Phe312fs)	rs386833966
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs)	rs2034349431
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)	rs386833968

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