ClinVar Miner

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

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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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_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18524
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.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_000080.4(CHRNE):c.345-7C>T rs72835059 0.07330
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_000080.4(CHRNE):c.-8G>A rs77481135 0.03561
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
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_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_005055.5(RAPSN):c.776G>A (p.Arg259His) rs766051613 0.00024
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00008
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_005055.5(RAPSN):c.691-11del rs34729771

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