List of variants reported as uncertain significance for Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	rs35810986	0.00065
NM_005055.5(RAPSN):c.-23G>A	rs370356548	0.00011
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)	rs570140663	0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)	rs770633491	0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)	rs150756111	0.00005
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)	rs372865599	0.00004
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)	rs201725858	0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met)	rs369570812	0.00004
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)	rs1380619456	0.00002
NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)	rs1272838959	0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)	rs766845970	0.00001
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)	rs761730497	0.00001
NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)	rs772147307	0.00001

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