List of variants reported for Neuronal ceroid lipofuscinosis 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)	rs138110438	0.00034
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)	rs773979248	0.00008
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)	rs369100769	0.00007
NM_006493.4(CLN5):c.152G>A (p.Arg51His)	rs367952803	0.00006
NM_006493.4(CLN5):c.420A>G (p.Gln140=)	rs753732321	0.00003
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)	rs201464545	0.00003
NM_006493.4(CLN5):c.144dup (p.Ser49fs)	rs386833970
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)	rs201068201
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	rs786204644
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)	rs386833967

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