List of variants reported as uncertain significance for Familial infantile myasthenia by Baylor Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)	rs8178989	0.00086
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln)	rs200335347	0.00015
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln)	rs1049061686	0.00001
NM_020549.5(CHAT):c.156_157insA (p.Gly53fs)
NM_020549.5(CHAT):c.286+1G>T
NM_020549.5(CHAT):c.287-2A>G
NM_020549.5(CHAT):c.349del (p.Arg117fs)	rs1198717023
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr)	rs1838634644
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)	rs531450737
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer)	rs1838384543

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