List of variants reported as likely benign for Congenital myasthenic syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.*6A>G	rs55806270	0.00487
NM_000080.4(CHRNE):c.1220-5G>A	rs188564977	0.00287
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)	rs151193377	0.00197
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)	rs140996453	0.00138
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)	rs56245238	0.00114
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)	rs139398367	0.00067
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	rs35810986	0.00065
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)	rs140023380	0.00046
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)	rs199807050	0.00026
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)	rs757215612	0.00019
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)	rs201463598	0.00016
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)	rs201434993	0.00010
NM_005055.5(RAPSN):c.864G>A (p.Ala288=)	rs147966227	0.00010
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)	rs376713095	0.00007
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)	rs201796294	0.00007
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=)	rs745744138	0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)	rs767374241	0.00006
NM_000080.4(CHRNE):c.948G>A (p.Thr316=)	rs144207552	0.00006
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)	rs772143528	0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)	rs201030784	0.00004
NM_000080.4(CHRNE):c.15G>A (p.Pro5=)	rs756933520	0.00004
NM_000080.4(CHRNE):c.802+7A>C	rs756213406	0.00003
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=)	rs778313885	0.00001
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)	rs370770111
NM_000080.4(CHRNE):c.132G>A (p.Glu44=)	rs2151098887
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)	rs139171143
NM_000080.4(CHRNE):c.802+9T>C	rs199876621
NM_005055.5(RAPSN):c.975G>A (p.Gln325=)	rs528431446

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