List of variants reported as likely benign for Congenital myasthenic syndrome 12 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001244710.2(GFPT1):c.*6003G>T	rs143649075	0.00416
NM_001244710.2(GFPT1):c.*867G>A	rs72905155	0.00389
NM_001244710.2(GFPT1):c.*2364C>T	rs182934478	0.00379
NM_001244710.2(GFPT1):c.*2916A>G	rs114138715	0.00379
NM_001244710.2(GFPT1):c.*2428G>A	rs191588030	0.00321
NM_001244710.2(GFPT1):c.*1053G>A	rs535434783	0.00308
NM_001244710.2(GFPT1):c.*4944A>G	rs112572296	0.00246
NM_001244710.2(GFPT1):c.*4274A>T	rs142243075	0.00210
NM_001244710.2(GFPT1):c.*3134A>G	rs79748218	0.00022
NM_001244710.2(GFPT1):c.223+5C>T	rs200631666	0.00021
NM_001244710.2(GFPT1):c.*673A>G	rs533310642	0.00009
NM_001244710.2(GFPT1):c.116-12A>G	rs540758570

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