List of variants in gene combination ALG14, LOC129930989 reported as uncertain significance for Congenital myasthenic syndrome 15

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_144988.4(ALG14):c.98C>T (p.Pro33Leu)	rs200080963	0.00016
NM_144988.4(ALG14):c.83C>A (p.Ser28Tyr)	rs201827828	0.00008
NM_144988.4(ALG14):c.136+1G>C	rs150550220	0.00007
NM_144988.4(ALG14):c.16G>A (p.Val6Ile)	rs756921157	0.00002
NM_144988.4(ALG14):c.109C>T (p.Leu37Phe)	rs1212603713	0.00001
NM_144988.4(ALG14):c.38C>T (p.Ala13Val)	rs983938710	0.00001
NM_144988.4(ALG14):c.113G>A (p.Ser38Asn)	rs139521179
NM_144988.4(ALG14):c.127G>C (p.Ala43Pro)
NM_144988.4(ALG14):c.20T>C (p.Leu7Pro)
NM_144988.4(ALG14):c.24T>A (p.Ala8=)
NM_144988.4(ALG14):c.66A>G (p.Ile22Met)	rs1309034063
NM_144988.4(ALG14):c.80G>T (p.Arg27Leu)	rs1267285963
NM_144988.4(ALG14):c.82T>C (p.Ser28Pro)
NM_144988.4(ALG14):c.86T>C (p.Met29Thr)	rs1156822888

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