ClinVar Miner

List of variants reported as benign for Familial infantile myasthenia by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_020549.5(CHAT):c.1839+71C>T rs7076926 0.82115
NM_020549.5(CHAT):c.-44G>C rs7903315 0.54734
NM_020549.5(CHAT):c.1635-58A>C rs12264845 0.39300
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544

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