List of variants in gene RP1L1 reported as likely pathogenic for Retinitis pigmentosa 88

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs)	rs781490139	0.00036
NM_178857.6(RP1L1):c.1024_1026delinsCTCCT (p.Arg342fs)	rs1797899160
NM_178857.6(RP1L1):c.196G>C (p.Asp66His)	rs760478436
NM_178857.6(RP1L1):c.2380G>T (p.Glu794Ter)	rs267601690
NM_178857.6(RP1L1):c.330dup (p.Lys111fs)	rs770312128
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)	rs201017122

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