List of variants in gene FRRS1L reported as likely pathogenic for complex neurodevelopmental disorder

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_014334.4(FRRS1L):c.239-2A>G	rs1831307625
NM_014334.4(FRRS1L):c.310A>G (p.Lys104Glu)
NM_014334.4(FRRS1L):c.463-2A>G	rs1564229228
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter)	rs779716535
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_014334.4(FRRS1L):c.69del (p.Ala24fs)

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