List of variants studied for late infantile neuronal ceroid lipofuscinosis by 3billion, Medical Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	rs1451777867	0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	rs201095412	0.00001
NM_018941.4(CLN8):c.570G>T (p.Trp190Cys)	rs772518654	0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	rs587779411	0.00001
NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg)
NM_001371596.2(MFSD8):c.1064T>G (p.Leu355Ter)	rs2148841110
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)	rs1184115888
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)	rs1801672516

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