List of variants in gene CLN3 studied for Retinal dystrophy

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_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	rs139842473	0.00008
NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)	rs777383109	0.00004
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	rs121434286	0.00003
NM_001042432.2(CLN3):c.533+1G>A	rs386833728
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)	rs386833733
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)	rs2046158549
NM_001042432.2(CLN3):c.790G>C (p.Gly264Arg)	rs2046156366
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)	rs748844685
NM_001042432.2(CLN3):c.867C>T (p.Val289=)	rs2046117159

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