List of variants in gene RAPSN reported as likely pathogenic for Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	rs121909254	0.00006
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	rs104894294	0.00002
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs)	rs1475015182	0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	rs767507908	0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	rs368695664	0.00001
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)	rs121909255	0.00001
NM_005055.5(RAPSN):c.531+1G>T	rs1421354085	0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	rs559933584	0.00001
NM_005055.5(RAPSN):c.1172T>C (p.Leu391Pro)
NM_005055.5(RAPSN):c.186dup (p.Leu63fs)
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
NM_005055.5(RAPSN):c.346del (p.Arg116fs)
NM_005055.5(RAPSN):c.430dup (p.Glu144fs)
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
NM_005055.5(RAPSN):c.523C>T (p.Gln175Ter)
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)	rs2153309050
NM_005055.5(RAPSN):c.691-2A>G

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