List of variants in gene CLN5 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)	rs1800209	0.19521
NM_006493.4(CLN5):c.-144C>T	rs77416795	0.12832
NM_006493.4(CLN5):c.-76A>G	rs7987664	0.07840
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)	rs36038805	0.03060
NM_006493.4(CLN5):c.381T>G (p.Thr127=)	rs34481987	0.01377
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)	rs41287036	0.00026
NM_006493.4(CLN5):c.298C>A (p.Pro100Thr)	rs2154034644
NM_006493.4(CLN5):c.409G>A (p.Glu137Lys)	rs2154034717
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)	rs386833977
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)	rs1555274005
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	rs587780315

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