ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome 20

Included ClinVar conditions (2):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021815.5(SLC5A7):c.1082G>A (p.Arg361Gln) rs147656110 0.00001
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_021815.5(SLC5A7):c.143A>G (p.Asp48Gly) rs886039768
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu) rs886039765
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser) rs886039766

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