ClinVar Miner

List of variants in gene CHAT reported as uncertain significance for Familial infantile myasthenia

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Total variants: 152
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HGVS dbSNP
NC_000010.10:g.(?_50821083)_(50874150_?)dup
NC_000010.10:g.(?_50822226)_(50873102_?)dup
NM_020549.4(CHAT):c.1009G>C (p.Val337Leu) rs1462079971
NM_020549.4(CHAT):c.1033G>A (p.Glu345Lys)
NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) rs769234940
NM_020549.4(CHAT):c.1142T>C (p.Ile381Thr) rs372758559
NM_020549.4(CHAT):c.1144G>C (p.Glu382Gln)
NM_020549.4(CHAT):c.1148G>A (p.Arg383His)
NM_020549.4(CHAT):c.1174G>A (p.Ala392Thr) rs115877658
NM_020549.4(CHAT):c.1211C>T (p.Ala404Val) rs192592698
NM_020549.4(CHAT):c.1282-6T>C rs771457200
NM_020549.4(CHAT):c.1291G>T (p.Gly431Cys) rs1554807467
NM_020549.4(CHAT):c.1321G>A (p.Glu441Lys) rs121912816
NM_020549.4(CHAT):c.1345G>A (p.Val449Ile) rs757733319
NM_020549.4(CHAT):c.1382T>C (p.Met461Thr) rs918273981
NM_020549.4(CHAT):c.1385C>T (p.Thr462Met) rs538478136
NM_020549.4(CHAT):c.1420G>A (p.Val474Ile) rs371719364
NM_020549.4(CHAT):c.1423A>T (p.Ser475Cys) rs765549293
NM_020549.4(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.4(CHAT):c.1450C>T (p.Arg484Trp)
NM_020549.4(CHAT):c.1460G>T (p.Cys487Phe) rs201293521
NM_020549.4(CHAT):c.1466C>T (p.Pro489Leu) rs764921945
NM_020549.4(CHAT):c.1511+5G>A rs371888779
NM_020549.4(CHAT):c.1511G>A (p.Arg504Gln) rs200335347
NM_020549.4(CHAT):c.1550A>C (p.Asp517Ala) rs1368752304
NM_020549.4(CHAT):c.1635-3C>G
NM_020549.4(CHAT):c.1651G>C (p.Val551Leu) rs1564493573
NM_020549.4(CHAT):c.1652T>G (p.Val551Gly) rs1554808432
NM_020549.4(CHAT):c.1661A>G (p.Tyr554Cys)
NM_020549.4(CHAT):c.1663G>A (p.Glu555Lys) rs757303526
NM_020549.4(CHAT):c.1668C>T (p.Ser556=) rs55702495
NM_020549.4(CHAT):c.1679G>A (p.Arg560His) rs121912819
NM_020549.4(CHAT):c.1700T>C (p.Val567Ala)
NM_020549.4(CHAT):c.1735G>A (p.Ala579Thr)
NM_020549.4(CHAT):c.1769C>T (p.Ala590Val) rs1313042835
NM_020549.4(CHAT):c.176C>T (p.Pro59Leu) rs766916844
NM_020549.4(CHAT):c.1771G>A (p.Val591Met) rs201485243
NM_020549.4(CHAT):c.1801A>G (p.Lys601Glu)
NM_020549.4(CHAT):c.1814G>A (p.Arg605His) rs199926163
NM_020549.4(CHAT):c.181C>A (p.Pro61Thr) rs923971969
NM_020549.4(CHAT):c.1823C>A (p.Thr608Asn) rs773228076
NM_020549.4(CHAT):c.1839+3G>A
NM_020549.4(CHAT):c.1840-9A>G rs1279554995
NM_020549.4(CHAT):c.1843A>G (p.Ile615Val) rs759151717
NM_020549.4(CHAT):c.1880T>C (p.Leu627Pro)
NM_020549.4(CHAT):c.1883G>A (p.Arg628Gln) rs114545628
NM_020549.4(CHAT):c.1894C>T (p.Arg632Trp) rs141127966
NM_020549.4(CHAT):c.1895G>A (p.Arg632Gln) rs758448736
NM_020549.4(CHAT):c.1918G>A (p.Glu640Lys)
NM_020549.4(CHAT):c.1935A>C (p.Glu645Asp) rs775011277
NM_020549.4(CHAT):c.1963C>T (p.Leu655Phe)
NM_020549.4(CHAT):c.1977+4C>T rs200116201
NM_020549.4(CHAT):c.2004C>G (p.Cys668Trp) rs1156904329
NM_020549.4(CHAT):c.206C>A (p.Pro69His) rs1283840204
NM_020549.4(CHAT):c.2180C>A (p.Pro727His) rs1554809701
NM_020549.4(CHAT):c.2183C>T (p.Thr728Ile) rs74334349
NM_020549.4(CHAT):c.220A>G (p.Thr74Ala) rs1554801418
NM_020549.4(CHAT):c.2219C>T (p.Thr740Met) rs755783618
NM_020549.4(CHAT):c.254C>G (p.Ala85Gly) rs1564469074
NM_020549.4(CHAT):c.275C>G (p.Pro92Arg) rs372298555
NM_020549.4(CHAT):c.284C>A (p.Ala95Glu) rs977117524
NM_020549.4(CHAT):c.314G>C (p.Gly105Ala) rs149711635
NM_020549.4(CHAT):c.326C>T (p.Thr109Met) rs542610160
NM_020549.4(CHAT):c.374G>A (p.Ser125Asn)
NM_020549.4(CHAT):c.413C>A (p.Pro138Gln) rs557059182
NM_020549.4(CHAT):c.484A>G (p.Ser162Gly)
NM_020549.4(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020549.4(CHAT):c.580-5G>A rs763339825
NM_020549.4(CHAT):c.605T>G (p.Met202Arg) rs376808313
NM_020549.4(CHAT):c.619C>T (p.Arg207Cys) rs760936252
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020549.4(CHAT):c.665G>A (p.Arg222Gln)
NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) rs8178989
NM_020549.4(CHAT):c.693G>C (p.Gln231His)
NM_020549.4(CHAT):c.719C>T (p.Ser240Phe)
NM_020549.4(CHAT):c.769G>A (p.Asp257Asn) rs1564475567
NM_020549.4(CHAT):c.794G>A (p.Gly265Glu)
NM_020549.4(CHAT):c.920C>G (p.Ala307Gly) rs748250869
NM_020549.4(CHAT):c.929A>G (p.Asn310Ser) rs149976821
NM_020549.4(CHAT):c.973A>G (p.Ser325Gly)
NM_020549.4(CHAT):c.989T>C (p.Phe330Ser) rs1554804021
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys)
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu)
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr)
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro)
NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln)
NM_020549.5(CHAT):c.1186G>A (p.Val396Met)
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp)
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn)
NM_020549.5(CHAT):c.1282-3C>T
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala)
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser)
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln)
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro)
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu)
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg)
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val)
NM_020549.5(CHAT):c.1481A>C (p.His494Pro)
NM_020549.5(CHAT):c.1512-5C>A
NM_020549.5(CHAT):c.157G>A (p.Gly53Arg)
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val)
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val)
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile)
NM_020549.5(CHAT):c.1750G>A (p.Val584Met)
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val)
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn)
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr)
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp)
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val)
NM_020549.5(CHAT):c.208del (p.Leu70fs)
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del) rs750942168
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg)
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr)
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg)
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp)
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile)
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile)
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu)
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser)
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys)
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln)
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly)
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser)
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu)
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser)
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu)
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)
NM_020549.5(CHAT):c.45del (p.Lys16fs)
NM_020549.5(CHAT):c.463T>A (p.Ser155Thr)
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn)
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser)
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln)
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro)
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile)
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser)
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys)
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser)
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys)
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr)
NM_020549.5(CHAT):c.910G>A (p.Val304Ile)
NM_020549.5(CHAT):c.916G>C (p.Val306Leu)
NM_020549.5(CHAT):c.92T>A (p.Val31Glu)
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp)
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys)
NM_020984.3(CHAT):c.-39C>T rs776042082
NM_020984.3(CHAT):c.-5G>A
NM_020984.3(CHAT):c.-68-2075G>C
NM_020984.3(CHAT):c.-68-2081A>C
NM_020984.3(CHAT):c.-68-2132C>T rs923971969
NM_020984.3(CHAT):c.-68-2167dup

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