List of variants in gene RAPSN reported as benign for congenital myasthenic syndrome

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	rs7111873	0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	rs7126210	0.61595
NM_005055.5(RAPSN):c.193-15C>T	rs45547231	0.11254
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	rs45603036	0.10742
NM_005055.5(RAPSN):c.*57C>T	rs45617144	0.10726
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	rs34312154	0.08810
NM_005055.5(RAPSN):c.*207C>A	rs73459751	0.01891
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)	rs57878668	0.01874
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)	rs34625105	0.01344
NM_005055.5(RAPSN):c.193-14G>A	rs114738594	0.00529
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)	rs72905825	0.00337
NM_005055.5(RAPSN):c.913-15A>G	rs185204384	0.00221
NM_005055.5(RAPSN):c.960G>A (p.Gly320=)	rs145357531	0.00216
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)	rs766051613	0.00024
NM_005055.5(RAPSN):c.690+10C>T	rs78293924	0.00006
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)	rs190548363	0.00005
NM_005055.5(RAPSN):c.1166+19del	rs760797252
NM_005055.5(RAPSN):c.1166+19dup
NM_005055.5(RAPSN):c.691-11del	rs34729771

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