ClinVar Miner

List of variants in gene CHAT reported as likely benign for congenital myasthenic syndrome 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP
NM_020549.4(CHAT):c.1032C>T (p.Asp344=) rs145203976
NM_020549.4(CHAT):c.1038T>C (p.Arg346=) rs367961073
NM_020549.4(CHAT):c.1068C>T (p.Asp356=) rs748193892
NM_020549.4(CHAT):c.1069G>A (p.Gly357Arg) rs61731735
NM_020549.4(CHAT):c.1086C>T (p.Ala362=) rs374870408
NM_020549.4(CHAT):c.1087G>A (p.Glu363Lys) rs75262191
NM_020549.4(CHAT):c.1098G>A (p.Thr366=) rs780860401
NM_020549.4(CHAT):c.1111+7C>T rs767946637
NM_020549.4(CHAT):c.1124G>A (p.Arg375Gln) rs201616704
NM_020549.4(CHAT):c.1135G>C (p.Asp379His) rs115212829
NM_020549.4(CHAT):c.1173C>T (p.Asp391=) rs141690626
NM_020549.4(CHAT):c.1230C>T (p.Gly410=) rs779724822
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020549.4(CHAT):c.1275C>A (p.Ser425=) rs767778694
NM_020549.4(CHAT):c.1281+7C>T rs776458664
NM_020549.4(CHAT):c.1371G>A (p.Leu457=) rs1274962675
NM_020549.4(CHAT):c.1401G>A (p.Lys467=) rs1305182651
NM_020549.4(CHAT):c.1408C>A (p.Arg470=) rs142889639
NM_020549.4(CHAT):c.1464C>A (p.Ser488=) rs1590611293
NM_020549.4(CHAT):c.1485A>G (p.Leu495=) rs151031033
NM_020549.4(CHAT):c.1494G>A (p.Ser498=) rs139722660
NM_020549.4(CHAT):c.1530C>T (p.Asp510=) rs558298529
NM_020549.4(CHAT):c.156C>T (p.Ala52=) rs1286222980
NM_020549.4(CHAT):c.1955G>A (p.Arg652Gln) rs116628504
NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) rs79414242
NM_020549.4(CHAT):c.2178G>A (p.Pro726=) rs77144546
NM_020549.4(CHAT):c.2222G>A (p.Arg741Lys) rs114719193
NM_020549.4(CHAT):c.222C>T (p.Thr74=) rs767600029
NM_020549.4(CHAT):c.252A>C (p.Ala84=) rs112079336
NM_020549.4(CHAT):c.258G>A (p.Ser86=) rs778636468
NM_020549.4(CHAT):c.287-4C>G rs779267880
NM_020549.4(CHAT):c.349C>T (p.Arg117Cys) rs200361897
NM_020549.4(CHAT):c.580-9C>G rs371756448
NM_020549.4(CHAT):c.651C>T (p.Ala217=) rs575515952
NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) rs8178989
NM_020549.4(CHAT):c.698+7C>T rs1590563362
NM_020549.4(CHAT):c.699-5T>C rs1321871575
NM_020549.4(CHAT):c.754C>T (p.His252Tyr) rs376994468
NM_020549.4(CHAT):c.834C>T (p.Ser278=) rs775502083
NM_020549.4(CHAT):c.843G>C (p.Arg281=) rs768892260
NM_020549.4(CHAT):c.846C>T (p.Leu282=) rs1213463622
NM_020549.4(CHAT):c.858C>T (p.Thr286=) rs200423662
NM_020549.4(CHAT):c.85A>C (p.Arg29=) rs772025588
NM_020549.4(CHAT):c.861G>A (p.Gln287=) rs1590572872
NM_020549.4(CHAT):c.867G>A (p.Thr289=) rs574542737
NM_020549.4(CHAT):c.968G>A (p.Arg323His) rs200176236
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
NM_020549.5(CHAT):c.117G>C (p.Ser39=)
NM_020549.5(CHAT):c.1281+8G>A
NM_020549.5(CHAT):c.1320C>T (p.Cys440=)
NM_020549.5(CHAT):c.1338T>C (p.Asp446=)
NM_020549.5(CHAT):c.1344C>T (p.Ile448=)
NM_020549.5(CHAT):c.1386G>A (p.Thr462=)
NM_020549.5(CHAT):c.1512-10T>C
NM_020549.5(CHAT):c.1635-5C>T
NM_020549.5(CHAT):c.1671G>A (p.Ala557=)
NM_020549.5(CHAT):c.1716G>A (p.Ser572=)
NM_020549.5(CHAT):c.1728G>A (p.Glu576=)
NM_020549.5(CHAT):c.1746A>G (p.Arg582=)
NM_020549.5(CHAT):c.1839+10G>A
NM_020549.5(CHAT):c.1839+9C>T
NM_020549.5(CHAT):c.18G>A (p.Ala6=)
NM_020549.5(CHAT):c.1971T>C (p.Thr657=)
NM_020549.5(CHAT):c.2049C>T (p.Asn683=)
NM_020549.5(CHAT):c.2112T>C (p.Ser704=)
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
NM_020549.5(CHAT):c.258G>C (p.Ser86=)
NM_020549.5(CHAT):c.276G>A (p.Pro92=)
NM_020549.5(CHAT):c.287-10T>C
NM_020549.5(CHAT):c.388-4C>T
NM_020549.5(CHAT):c.388-6T>C
NM_020549.5(CHAT):c.393G>T (p.Leu131=)
NM_020549.5(CHAT):c.405C>T (p.Pro135=)
NM_020549.5(CHAT):c.435G>A (p.Thr145=)
NM_020549.5(CHAT):c.474G>A (p.Gln158=)
NM_020549.5(CHAT):c.494T>C (p.Ile165Thr)
NM_020549.5(CHAT):c.618C>T (p.Asn206=)
NM_020549.5(CHAT):c.651C>G (p.Ala217=)
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del) rs560648873
NM_020549.5(CHAT):c.963C>T (p.Phe321=)
NM_020984.3(CHAT):c.-10C>A rs917815714
NM_020984.3(CHAT):c.-68-2194G>T rs776411377
NM_020984.3(CHAT):c.-68-2220G>C rs1399903985
NM_020984.3(CHAT):c.-68-2289G>A rs1444707075

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.