List of variants in gene RP1L1 reported as likely pathogenic for Occult macular dystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)	rs371886218	0.00005
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	rs267607017	0.00001
NM_178857.6(RP1L1):c.5033del (p.Ala1678fs)	rs1797772026

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