ClinVar Miner

List of variants reported as benign for Familial infantile myasthenia by Invitae

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_020549.5(CHAT):c.287-431G>A rs1880676 0.17399
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_020549.5(CHAT):c.1674C>T (p.Ser558=) rs7073028 0.02218
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_020549.5(CHAT):c.1281+16G>A rs61132699 0.02037
NM_020549.5(CHAT):c.1131G>A (p.Ser377=) rs115126024 0.02036
NM_020549.5(CHAT):c.1122C>T (p.Asn374=) rs61115650 0.02026
NM_020549.5(CHAT):c.903T>C (p.Pro301=) rs113897064 0.01548
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00824
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu) rs868749 0.00385
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020549.5(CHAT):c.1111+8G>A rs142454032 0.00191
NM_020549.5(CHAT):c.576C>T (p.Asn192=) rs150236872 0.00176
NM_020549.5(CHAT):c.789G>A (p.Leu263=) rs114090981 0.00172
NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn) rs148525631 0.00143
NM_020549.5(CHAT):c.909C>T (p.His303=) rs76570508 0.00136
NM_020549.5(CHAT):c.753-16C>T rs201489027 0.00133
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00060
NM_020549.5(CHAT):c.1511+16G>A rs772971552 0.00019
NM_020549.5(CHAT):c.1123C>T (p.Arg375Trp) rs141794970 0.00013
NM_020549.5(CHAT):c.417G>C (p.Leu139=) rs116390167 0.00008
NM_020549.5(CHAT):c.1882C>A (p.Arg628=) rs116097791 0.00006
NM_020549.5(CHAT):c.1062G>A (p.Thr354=) rs529337162 0.00004
NM_020549.5(CHAT):c.1654C>T (p.Pro552Ser) rs147079245 0.00003
NM_020549.5(CHAT):c.1197C>T (p.Ser399=) rs554276268 0.00001
NM_020549.5(CHAT):c.916G>A (p.Val306Ile) rs551219437 0.00001
NM_020549.5(CHAT):c.1381= (p.Val461=) rs4838544
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544
NM_020549.5(CHAT):c.1512-10del
NM_020549.5(CHAT):c.174C>A (p.Ser58Arg) rs572002174
NM_020549.5(CHAT):c.1977+10del rs751847133

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