List of variants in gene combination CLN5, LOC130009913 reported by Counsyl

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.119del (p.Gly40fs)	rs1555273609
NM_006493.4(CLN5):c.133_134del (p.Ser45fs)	rs780198002
NM_006493.4(CLN5):c.155_167del (p.His52fs)	rs1057517134
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup)	rs1555273571
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])	rs1409904698
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs)	rs1057516814
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)	rs764790770
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)	rs104894385
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	rs200348035

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