List of variants in gene CLN3 studied for Retinitis pigmentosa

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: 14

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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.988G>A (p.Val330Ile)	rs386833744	0.00004
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)	rs386833706	0.00001
NM_001042432.2(CLN3):c.837+5G>A	rs756848924	0.00001
NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del
NM_001042432.2(CLN3):c.370del (p.Tyr124fs)	rs1555468920
NM_001042432.2(CLN3):c.379del (p.Arg127fs)	rs386833717
NM_001042432.2(CLN3):c.461-279_677+384del	rs1555468632
NM_001042432.2(CLN3):c.461-280_677+382del	rs1555468634
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)	rs1401497994
NM_001042432.2(CLN3):c.534G>C (p.Arg178Ser)	rs756640405
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro)	rs2141712276
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly)	rs1555468695
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)	rs748844685

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