List of variants in gene RAPSN reported as likely pathogenic for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11

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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_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.872G>A (p.Gly291Asp)	rs374604570	0.00001
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.272G>A (p.Arg91His)	rs375218091
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)	rs375218091
NM_005055.5(RAPSN):c.691-1G>A
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)	rs374604570
NM_005055.5(RAPSN):c.911_912+1dup	rs2153308410
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.966+1_966+2delinsAG	rs2153308170

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