ClinVar Miner

List of variants reported as uncertain significance for Familial infantile myasthenia by Revvity Omics, Revvity

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn) rs148525631 0.00143
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg) rs61731735 0.00074
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr) rs115877658 0.00056
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00040
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_020549.5(CHAT):c.858C>T (p.Thr286=) rs200423662 0.00024
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu) rs142285373 0.00016
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln) rs200335347 0.00014
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln) rs201616704 0.00011
NM_020549.5(CHAT):c.119G>T (p.Gly40Val) rs776411377 0.00010
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met) rs538478136 0.00010
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys) rs147815999 0.00009
NM_020549.5(CHAT):c.326C>T (p.Thr109Met) rs542610160 0.00008
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile) rs757733319 0.00007
NM_020549.5(CHAT):c.1037G>A (p.Arg346His) rs779668516 0.00005
NM_020549.5(CHAT):c.1814G>A (p.Arg605His) rs199926163 0.00005
NM_020549.5(CHAT):c.1735G>A (p.Ala579Thr) rs750002983 0.00004
NM_020549.5(CHAT):c.1771G>A (p.Val591Met) rs201485243 0.00004
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser) rs201553605 0.00003
NM_020549.5(CHAT):c.1186G>A (p.Val396Met) rs536359684 0.00002
NM_020549.5(CHAT):c.1414G>A (p.Asp472Asn) rs2132811983 0.00002
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser) rs749948399 0.00001
NM_020549.5(CHAT):c.1426G>A (p.Glu476Lys) rs766947649 0.00001
NM_020549.5(CHAT):c.1490C>T (p.Ser497Phe) rs141878259 0.00001
NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys) rs144918120 0.00001
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln) rs141881680 0.00001
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val) rs1313042835 0.00001
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn) rs1178039732 0.00001
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn) rs2132727991 0.00001
NM_020549.5(CHAT):c.916G>A (p.Val306Ile) rs551219437 0.00001
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met) rs533289708
NM_020549.5(CHAT):c.1198G>C (p.Asp400His) rs8178991
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp) rs778801148
NM_020549.5(CHAT):c.178C>T (p.His60Tyr) rs959739791
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp) rs116097791
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg) rs372298555
NM_020549.5(CHAT):c.279G>C (p.Arg93Ser) rs1458230921
NM_020549.5(CHAT):c.314G>T (p.Gly105Val) rs149711635
NM_020549.5(CHAT):c.335T>G (p.Leu112Arg) rs1380289034
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu) rs749662741
NM_020549.5(CHAT):c.91G>A (p.Val31Met) rs1005755959

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