List of variants in gene CLN3 reported as pathogenic for perceptual disorders

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	rs139842473	0.00008
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	rs121434286	0.00003
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	rs386833697	0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	rs765893479	0.00002
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_001042432.2(CLN3):c.1197+2T>A	rs2046020472
NM_001042432.2(CLN3):c.295-2A>G
NM_001042432.2(CLN3):c.370del (p.Tyr124fs)	rs1555468920
NM_001042432.2(CLN3):c.379del (p.Arg127fs)	rs386833717
NM_001042432.2(CLN3):c.461-280_677+382del	rs1555468634
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)	rs1555468695
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs)	rs2046113301
NM_001042432.2:c.(460+1_461-1)_(677+1_678-1)del

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