List of variants in gene RERE reported as pathogenic by Daryl Scott Lab, Baylor College of Medicine

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001042681.2(RERE):c.248dup (p.Ser84fs)	rs1557461427
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu)	rs878853011
NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro)	rs1557582271
NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr)	rs1557582259
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	rs1064793252
NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg)	rs1321809020
Single allele

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