ClinVar Miner

List of variants in gene CHAT reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020549.5(CHAT):c.712C>G (p.Leu238Val) rs375606885 0.00015
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln) rs200335347 0.00014
NM_020549.5(CHAT):c.740C>T (p.Ala247Val) rs561562136 0.00013
NM_020549.5(CHAT):c.1977+4C>T rs200116201 0.00011
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met) rs538478136 0.00010
NM_020549.5(CHAT):c.866C>T (p.Thr289Met) rs139352363 0.00010
NM_020549.5(CHAT):c.1511+5G>A rs371888779 0.00009
NM_020549.5(CHAT):c.1635-3C>G rs761868634 0.00009
NM_020549.5(CHAT):c.1375A>G (p.Lys459Glu) rs769398642 0.00006
NM_020549.5(CHAT):c.1460G>T (p.Cys487Phe) rs201293521 0.00006
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu) rs977117524 0.00006
NM_020549.5(CHAT):c.580-5G>A rs763339825 0.00006
NM_020549.5(CHAT):c.1423A>T (p.Ser475Cys) rs765549293 0.00005
NM_020549.5(CHAT):c.2139A>C (p.Glu713Asp) rs771548584 0.00005
NM_020549.5(CHAT):c.1142T>C (p.Ile381Thr) rs372758559 0.00004
NM_020549.5(CHAT):c.1435G>A (p.Ala479Thr) rs3793795 0.00004
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.1977+5G>A rs780449243 0.00004
NM_020549.5(CHAT):c.1105G>A (p.Val369Met) rs769754418 0.00003
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser) rs201553605 0.00003
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg) rs1423177834 0.00003
NM_020549.5(CHAT):c.1295G>A (p.Arg432Gln) rs377494035 0.00003
NM_020549.5(CHAT):c.1597G>A (p.Ala533Thr) rs1036422847 0.00003
NM_020549.5(CHAT):c.1635-5C>A rs776745899 0.00003
NM_020549.5(CHAT):c.1675A>G (p.Ile559Val) rs202040717 0.00003
NM_020549.5(CHAT):c.181C>T (p.Pro61Ser) rs923971969 0.00003
NM_020549.5(CHAT):c.1895G>A (p.Arg632Gln) rs758448736 0.00003
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys) rs1056302745 0.00003
NM_020549.5(CHAT):c.314G>C (p.Gly105Ala) rs149711635 0.00003
NM_020549.5(CHAT):c.374G>A (p.Ser125Asn) rs756138129 0.00003
NM_020549.5(CHAT):c.850G>A (p.Gly284Ser) rs146236256 0.00003
NM_020549.5(CHAT):c.1148G>A (p.Arg383His) rs779919147 0.00002
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.157G>A (p.Gly53Arg) rs968331105 0.00002
NM_020549.5(CHAT):c.166G>C (p.Gly56Arg) rs1035380885 0.00002
NM_020549.5(CHAT):c.2185G>A (p.Glu729Lys) rs751461280 0.00002
NM_020549.5(CHAT):c.2219C>T (p.Thr740Met) rs755783618 0.00002
NM_020549.5(CHAT):c.230A>G (p.His77Arg) rs1158850299 0.00002
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser) rs1429339523 0.00002
NM_020549.5(CHAT):c.387T>C (p.Ser129=) rs143723043 0.00002
NM_020549.5(CHAT):c.707C>T (p.Ala236Val) rs770250348 0.00002
NM_020549.5(CHAT):c.847C>G (p.Pro283Ala) rs1326545990 0.00002
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr) rs1373162548 0.00002
NM_020549.5(CHAT):c.92T>G (p.Val31Gly) rs1016283273 0.00002
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp) rs1464103196 0.00002
NM_020549.5(CHAT):c.1025A>G (p.Asn342Ser) rs781745178 0.00001
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys) rs778837182 0.00001
NM_020549.5(CHAT):c.1033G>A (p.Glu345Lys) rs200776329 0.00001
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr) rs1004933171 0.00001
NM_020549.5(CHAT):c.1144G>C (p.Glu382Gln) rs1463880522 0.00001
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser) rs749948399 0.00001
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn) rs759707536 0.00001
NM_020549.5(CHAT):c.1281+6C>T rs745923819 0.00001
NM_020549.5(CHAT):c.1282-3C>T rs1373606481 0.00001
NM_020549.5(CHAT):c.1288G>A (p.Val430Met) rs745991038 0.00001
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser) rs562560467 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1360A>G (p.Thr454Ala) rs745938985 0.00001
NM_020549.5(CHAT):c.1383G>A (p.Val461=) rs370918939 0.00001
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln) rs774834313 0.00001
NM_020549.5(CHAT):c.1420G>A (p.Val474Ile) rs371719364 0.00001
NM_020549.5(CHAT):c.1466C>T (p.Pro489Leu) rs764921945 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.1550A>C (p.Asp517Ala) rs1368752304 0.00001
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln) rs141881680 0.00001
NM_020549.5(CHAT):c.1661A>G (p.Tyr554Cys) rs778572568 0.00001
NM_020549.5(CHAT):c.1696C>T (p.Arg566Cys) rs368957556 0.00001
NM_020549.5(CHAT):c.1699G>A (p.Val567Met) rs764077878 0.00001
NM_020549.5(CHAT):c.1750G>A (p.Val584Met) rs547073881 0.00001
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val) rs1313042835 0.00001
NM_020549.5(CHAT):c.176C>T (p.Pro59Leu) rs766916844 0.00001
NM_020549.5(CHAT):c.1777G>A (p.Ala593Thr) rs1840003719 0.00001
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val) rs190968891 0.00001
NM_020549.5(CHAT):c.1801A>G (p.Lys601Glu) rs1399092731 0.00001
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn) rs1178039732 0.00001
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn) rs773228076 0.00001
NM_020549.5(CHAT):c.1835T>C (p.Val612Ala) rs1840006246 0.00001
NM_020549.5(CHAT):c.1843A>G (p.Ile615Val) rs759151717 0.00001
NM_020549.5(CHAT):c.1880T>C (p.Leu627Pro) rs775066227 0.00001
NM_020549.5(CHAT):c.1918G>A (p.Glu640Lys) rs774403163 0.00001
NM_020549.5(CHAT):c.196C>A (p.Arg66Ser) rs1022799648 0.00001
NM_020549.5(CHAT):c.1995G>T (p.Glu665Asp) rs752896534 0.00001
NM_020549.5(CHAT):c.2004C>G (p.Cys668Trp) rs1156904329 0.00001
NM_020549.5(CHAT):c.2039C>T (p.Ala680Val) rs889759952 0.00001
NM_020549.5(CHAT):c.205C>A (p.Pro69Thr) rs924554606 0.00001
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr) rs1419018923 0.00001
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp) rs1840309929 0.00001
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile) rs1268273103 0.00001
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu) rs867343616 0.00001
NM_020549.5(CHAT):c.224C>T (p.Pro75Leu) rs866975495 0.00001
NM_020549.5(CHAT):c.238G>C (p.Glu80Gln) rs756348058 0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter) rs1384661323 0.00001
NM_020549.5(CHAT):c.244T>G (p.Cys82Gly) rs1330484583 0.00001
NM_020549.5(CHAT):c.316C>T (p.Leu106Phe) rs776042082 0.00001
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser) rs1323843750 0.00001
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu) rs557059182 0.00001
NM_020549.5(CHAT):c.43G>A (p.Gly15Arg) rs1838388018 0.00001
NM_020549.5(CHAT):c.520G>A (p.Gly174Ser) rs762497836 0.00001
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser) rs757480104 0.00001
NM_020549.5(CHAT):c.540G>C (p.Gln180His) rs200143133 0.00001
NM_020549.5(CHAT):c.547C>A (p.Leu183Ile) rs746030420 0.00001
NM_020549.5(CHAT):c.55A>G (p.Arg19Gly) rs1838389397 0.00001
NM_020549.5(CHAT):c.619C>T (p.Arg207Cys) rs760936252 0.00001
NM_020549.5(CHAT):c.652G>A (p.Val218Met) rs751863010 0.00001
NM_020549.5(CHAT):c.662C>T (p.Ala221Val) rs1375003470 0.00001
NM_020549.5(CHAT):c.719C>T (p.Ser240Phe) rs1269023544 0.00001
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn) rs2132727991 0.00001
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser) rs1838884383 0.00001
NM_020549.5(CHAT):c.806G>T (p.Cys269Phe) rs757624145 0.00001
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys) rs1186633197 0.00001
NM_020549.5(CHAT):c.84G>T (p.Arg28Ser) rs745753124 0.00001
NM_020549.5(CHAT):c.869T>C (p.Leu290Pro) rs1838890663 0.00001
NM_020549.5(CHAT):c.895C>T (p.Pro299Ser) rs540899575 0.00001
NM_020549.5(CHAT):c.929A>G (p.Asn310Ser) rs149976821 0.00001
NM_020549.5(CHAT):c.965G>A (p.Arg322His) rs906626657 0.00001
NC_000010.10:g.(?_50821083)_(50874150_?)dup
NC_000010.10:g.(?_50822226)_(50873102_?)dup
NM_020549.5(CHAT):c.1009G>C (p.Val337Leu) rs1462079971
NM_020549.5(CHAT):c.1026C>A (p.Asn342Lys) rs752685760
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu) rs1411738057
NM_020549.5(CHAT):c.1069G>T (p.Gly357Trp) rs61731735
NM_020549.5(CHAT):c.1078G>A (p.Glu360Lys) rs767903393
NM_020549.5(CHAT):c.1097C>A (p.Thr366Lys) rs533289708
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met) rs533289708
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro) rs779919147
NM_020549.5(CHAT):c.1155C>G (p.Ile385Met) rs1209379806
NM_020549.5(CHAT):c.1162G>C (p.Val388Leu) rs747366078
NM_020549.5(CHAT):c.1198G>C (p.Asp400His) rs8178991
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp) rs1441347177
NM_020549.5(CHAT):c.122G>C (p.Gly41Ala) rs1441347177
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala) rs1839755600
NM_020549.5(CHAT):c.1289T>C (p.Val430Ala) rs2538860649
NM_020549.5(CHAT):c.1291G>T (p.Gly431Cys) rs1554807467
NM_020549.5(CHAT):c.1313T>C (p.Val438Ala) rs2538860759
NM_020549.5(CHAT):c.1360A>T (p.Thr454Ser) rs745938985
NM_020549.5(CHAT):c.1381G>T (p.Val461Leu) rs4838544
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
NM_020549.5(CHAT):c.1408C>G (p.Arg470Gly) rs142889639
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro) rs774834313
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu) rs371719364
NM_020549.5(CHAT):c.1425C>A (p.Ser475Arg) rs553771451
NM_020549.5(CHAT):c.1435G>C (p.Ala479Pro) rs3793795
NM_020549.5(CHAT):c.1436C>T (p.Ala479Val) rs1319866298
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg) rs1839799283
NM_020549.5(CHAT):c.1441C>T (p.Arg481Trp) rs751583653
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp) rs778801148
NM_020549.5(CHAT):c.1459T>A (p.Cys487Ser) rs375424189
NM_020549.5(CHAT):c.146dup (p.Gly50fs) rs1838395196
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val) rs1180007688
NM_020549.5(CHAT):c.1481A>C (p.His494Pro) rs1247659665
NM_020549.5(CHAT):c.1490C>A (p.Ser497Tyr) rs141878259
NM_020549.5(CHAT):c.1544A>T (p.Lys515Met) rs933692526
NM_020549.5(CHAT):c.157G>C (p.Gly53Arg) rs968331105
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val) rs1839894638
NM_020549.5(CHAT):c.1651G>C (p.Val551Leu) rs1564493573
NM_020549.5(CHAT):c.1652T>G (p.Val551Gly) rs1554808432
NM_020549.5(CHAT):c.1697G>A (p.Arg566His) rs1411285839
NM_020549.5(CHAT):c.1700T>C (p.Val567Ala) rs1839994676
NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del) rs139324199
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val) rs1839995687
NM_020549.5(CHAT):c.1727A>T (p.Glu576Val) rs2538877983
NM_020549.5(CHAT):c.1795C>T (p.Leu599Phe) rs2538878974
NM_020549.5(CHAT):c.181C>A (p.Pro61Thr) rs923971969
NM_020549.5(CHAT):c.1822A>T (p.Thr608Ser) rs1840005184
NM_020549.5(CHAT):c.1834G>C (p.Val612Leu) rs751100162
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr) rs1840006355
NM_020549.5(CHAT):c.1839+3G>A rs1840006511
NM_020549.5(CHAT):c.1858A>C (p.Ile620Leu) rs2538892631
NM_020549.5(CHAT):c.1859T>G (p.Ile620Ser) rs2132852411
NM_020549.5(CHAT):c.1863C>A (p.Asp621Glu) rs1590628381
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp) rs116097791
NM_020549.5(CHAT):c.1888C>G (p.Leu630Val) rs1362053478
NM_020549.5(CHAT):c.188C>T (p.Ala63Val) rs2496287791
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val) rs765840442
NM_020549.5(CHAT):c.1935A>C (p.Glu645Asp) rs775011277
NM_020549.5(CHAT):c.1943T>C (p.Leu648Pro) rs1242281029
NM_020549.5(CHAT):c.1946T>G (p.Met649Arg) rs1174113759
NM_020549.5(CHAT):c.1963C>T (p.Leu655Phe) rs1394460049
NM_020549.5(CHAT):c.1978-20T>C rs2538896465
NM_020549.5(CHAT):c.1997T>C (p.Met666Thr) rs1485449042
NM_020549.5(CHAT):c.2059G>C (p.Glu687Gln) rs1840303812
NM_020549.5(CHAT):c.206C>A (p.Pro69His) rs1283840204
NM_020549.5(CHAT):c.208del (p.Leu70fs) rs1838400244
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del) rs750942168
NM_020549.5(CHAT):c.2108C>T (p.Ser703Phe) rs1316112613
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg) rs1286894680
NM_020549.5(CHAT):c.212C>A (p.Pro71Gln) rs1180855605
NM_020549.5(CHAT):c.2180C>A (p.Pro727His) rs1554809701
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg) rs1840309085
NM_020549.5(CHAT):c.220A>G (p.Thr74Ala) rs1554801418
NM_020549.5(CHAT):c.2219C>A (p.Thr740Lys) rs755783618
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile) rs1840310830
NM_020549.5(CHAT):c.2238C>A (p.His746Gln) rs1234288422
NM_020549.5(CHAT):c.232A>C (p.Thr78Pro) rs1217500618
NM_020549.5(CHAT):c.246C>A (p.Cys82Ter) rs1409154681
NM_020549.5(CHAT):c.24G>T (p.Lys8Asn) rs1444707075
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser) rs1338798480
NM_020549.5(CHAT):c.254C>G (p.Ala85Gly) rs1564469074
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln) rs372298555
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly) rs1838405822
NM_020549.5(CHAT):c.287G>T (p.Gly96Val) rs1349499470
NM_020549.5(CHAT):c.311C>T (p.Pro104Leu) rs2132701987
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu) rs770749789
NM_020549.5(CHAT):c.387T>A (p.Ser129=) rs143723043
NM_020549.5(CHAT):c.413C>A (p.Pro138Gln) rs557059182
NM_020549.5(CHAT):c.419A>C (p.Gln140Pro) rs991870744
NM_020549.5(CHAT):c.45del (p.Lys16fs) rs1838387913
NM_020549.5(CHAT):c.463T>C (p.Ser155Pro) rs1838634644
NM_020549.5(CHAT):c.484A>G (p.Ser162Gly) rs1195682323
NM_020549.5(CHAT):c.486C>A (p.Ser162Arg) rs2132710676
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn) rs1838636916
NM_020549.5(CHAT):c.512C>T (p.Ala171Val) rs1838637030
NM_020549.5(CHAT):c.547C>T (p.Leu183Phe) rs746030420
NM_020549.5(CHAT):c.548T>C (p.Leu183Pro) rs1484911324
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln) rs747996335
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro) rs747996335
NM_020549.5(CHAT):c.614A>G (p.Asn205Ser) rs2132712941
NM_020549.5(CHAT):c.640T>G (p.Ser214Ala) rs1378520155
NM_020549.5(CHAT):c.693G>C (p.Gln231His) rs1838671242
NM_020549.5(CHAT):c.715A>G (p.Ile239Val) rs1430813048
NM_020549.5(CHAT):c.764C>T (p.Pro255Leu) rs2132727930
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile) rs754977595
NM_020549.5(CHAT):c.769G>A (p.Asp257Asn) rs1564475567
NM_020549.5(CHAT):c.782G>A (p.Gly261Asp) rs2132728015
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu) rs749662741
NM_020549.5(CHAT):c.818A>G (p.Tyr273Cys) rs2496352510
NM_020549.5(CHAT):c.82A>G (p.Arg28Gly) rs2496286559
NM_020549.5(CHAT):c.844C>T (p.Leu282Phe) rs1390587206
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser) rs1231575273
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys) rs1838390973
NM_020549.5(CHAT):c.883A>G (p.Ser295Gly) rs1473934667
NM_020549.5(CHAT):c.904G>A (p.Glu302Lys)
NM_020549.5(CHAT):c.916G>C (p.Val306Leu) rs551219437
NM_020549.5(CHAT):c.91G>A (p.Val31Met) rs1005755959
NM_020549.5(CHAT):c.920C>G (p.Ala307Gly) rs748250869
NM_020549.5(CHAT):c.92T>A (p.Val31Glu) rs1016283273
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys) rs771938918
NM_020549.5(CHAT):c.973A>G (p.Ser325Gly) rs1838968738
NM_020549.5(CHAT):c.976G>A (p.Glu326Lys) rs906778274
NM_020549.5(CHAT):c.996G>T (p.Gln332His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.