List of variants in gene CLN5 reported as likely benign by Ambry Genetics

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: 17

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HGVS	dbSNP	gnomAD frequency
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.705G>A (p.Val235=)	rs116531784	0.00163
NM_006493.4(CLN5):c.-146T>C	rs201615354	0.00104
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	rs146993892	0.00050
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)	rs200637649	0.00011
NM_006493.4(CLN5):c.-4C>T	rs587780896	0.00009
NM_006493.4(CLN5):c.417C>T (p.Phe139=)	rs371229525	0.00009
NM_006493.4(CLN5):c.642A>T (p.Val214=)	rs751496223	0.00007
NM_006493.4(CLN5):c.687C>T (p.Tyr229=)	rs778480440	0.00005
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)	rs762873839	0.00003
NM_006493.2(CLN5):c.117G>C (p.Ser39=)	rs779934262	0.00002
NM_006493.4(CLN5):c.627T>C (p.Tyr209=)	rs763980789	0.00002
NM_006493.4(CLN5):c.654A>C (p.Pro218=)	rs752406072	0.00002
NM_006493.4(CLN5):c.207T>C (p.Tyr69=)	rs764103764	0.00001
NM_006493.4(CLN5):c.24A>G (p.Ala8=)	rs757756318	0.00001
NM_006493.4(CLN5):c.447C>G (p.Leu149=)

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