List of variants in gene combination ALG14, LOC129930989 reported as likely benign 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)	rs34364382	0.00753
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)	rs139521179	0.00255
NM_144988.4(ALG14):c.40G>A (p.Val14Met)	rs11165298	0.00091
NM_144988.4(ALG14):c.36A>G (p.Gly12=)	rs368851775	0.00007
NM_144988.4(ALG14):c.9C>T (p.Cys3=)	rs780164458	0.00006
NM_144988.4(ALG14):c.111C>T (p.Leu37=)	rs1035901315
NM_144988.4(ALG14):c.132G>A (p.Gly44=)
NM_144988.4(ALG14):c.136+10G>A
NM_144988.4(ALG14):c.136+10G>C	rs771775941
NM_144988.4(ALG14):c.136+17C>A	rs2100856342
NM_144988.4(ALG14):c.136+18G>T
NM_144988.4(ALG14):c.21A>G (p.Leu7=)	rs1218214553
NM_144988.4(ALG14):c.6G>A (p.Val2=)

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