List of variants in gene CLN5 reported as likely benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.565+90T>A	rs7328841	0.03482
NM_006493.4(CLN5):c.565+262C>A	rs144108987	0.01236
NM_006493.4(CLN5):c.340-248T>C	rs45587934	0.01198
NM_006493.4(CLN5):c.174-284C>A	rs7984162	0.00713
NM_006493.4(CLN5):c.*180C>T	rs700364	0.00556
NM_006493.4(CLN5):c.566-147G>A	rs141010472	0.00483
NM_006493.4(CLN5):c.-87C>T	rs200353554	0.00309
NM_006493.4(CLN5):c.-99G>C	rs202118652	0.00208
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	rs146993892	0.00050
NM_006493.4(CLN5):c.417C>T (p.Phe139=)	rs371229525	0.00009
NM_006493.2(CLN5):c.-11G>C	rs554524153	0.00006
NM_006493.4(CLN5):c.687C>T (p.Tyr229=)	rs778480440	0.00005
NM_006493.2(CLN5):c.-8G>A	rs772316134	0.00004
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)	rs61504484	0.00003
NM_006493.2(CLN5):c.54A>G (p.Gln18=)	rs767480061	0.00003
NM_006493.2(CLN5):c.117G>C (p.Ser39=)	rs779934262	0.00002
NM_006493.2(CLN5):c.57C>A (p.Gly19=)	rs1057522685	0.00002
NM_006493.2(CLN5):c.24G>A (p.Gly8=)	rs751533177	0.00001
NM_006493.2(CLN5):c.5G>C (p.Arg2Pro)	rs796052342	0.00001
NM_006493.4(CLN5):c.21G>T (p.Thr7=)	rs1057521258	0.00001
NM_006493.4(CLN5):c.339+11A>G	rs755999018	0.00001
NM_006493.4(CLN5):c.565+15T>G	rs751120160	0.00001
NM_006493.4(CLN5):c.565+20C>T	rs780892019	0.00001
NM_006493.4(CLN5):c.*269G>A	rs137867457
NM_006493.4(CLN5):c.1062A>T (p.Thr354=)	rs1555274409
NM_006493.4(CLN5):c.21G>A (p.Thr7=)	rs1057521258
NM_006493.4(CLN5):c.21G>C (p.Thr7=)	rs1057521258
NM_006493.4(CLN5):c.565+20C>G	rs780892019
NM_006493.4(CLN5):c.566-56_566-55dup	rs58476086
NM_006493.4(CLN5):c.566-7A>G	rs772501269
NM_006493.4(CLN5):c.566-8dup	rs760343764
NM_006493.4(CLN5):c.752A>G (p.Asn251Ser)	rs777477178

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