List of variants in gene RP1L1 reported as pathogenic for inborn disorder of amino acid metabolism

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_178857.6(RP1L1):c.6530T>G (p.Leu2177Ter)	rs777475406	0.00007
NM_178857.6(RP1L1):c.1451del (p.Ser484fs)	rs749460193	0.00004
NM_178857.6(RP1L1):c.56C>A (p.Pro19His)	rs748984657	0.00004
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)	rs567106336	0.00002
NM_178857.6(RP1L1):c.2464C>T (p.Arg822Ter)	rs755599243	0.00002
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	rs267607017	0.00001
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter)	rs756996764
NM_178857.6(RP1L1):c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1318_Ala1319insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)	rs1585963931
NM_178857.6(RP1L1):c.4020_4021del (p.Glu1340fs)	rs760615743
NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter)	rs2117226120
NM_178857.6(RP1L1):c.5470C>T (p.Gln1824Ter)	rs1585959862
NM_178857.6(RP1L1):c.603del (p.Lys203fs)	rs387907367

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