ClinVar Miner

List of variants in gene B4GAT1 studied for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_006876.3(B4GAT1):c.117G>A (p.Gln39=) rs11537930 0.12566
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522 0.00291
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) rs1190625 0.00264
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=) rs139287952 0.00106
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) rs146812867 0.00059
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) rs143223962 0.00041
NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala) rs372380407 0.00016
NM_006876.3(B4GAT1):c.1056+7A>T rs373100703 0.00013
NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu) rs531686913 0.00011
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253 0.00011
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036 0.00010
NM_006876.3(B4GAT1):c.1074G>T (p.Val358=) rs768782904 0.00009
NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=) rs771065781 0.00007
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=) rs200574075 0.00007
NM_006876.3(B4GAT1):c.1100A>G (p.Asn367Ser) rs1024259166 0.00006
NM_006876.3(B4GAT1):c.162G>T (p.Arg54=) rs751180898 0.00006
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr) rs201892419 0.00006
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) rs377415983 0.00006
NM_006876.3(B4GAT1):c.1057-6C>T rs373478461 0.00005
NM_006876.3(B4GAT1):c.510C>G (p.Pro170=) rs761777602 0.00005
NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile) rs774458027 0.00004
NM_006876.3(B4GAT1):c.297G>A (p.Thr99=) rs772838995 0.00004
NM_006876.3(B4GAT1):c.312C>T (p.Asp104=) rs781614449 0.00004
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His) rs770685607 0.00003
NM_006876.3(B4GAT1):c.156C>T (p.Ser52=) rs767852256 0.00003
NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro) rs757942327 0.00003
NM_006876.3(B4GAT1):c.951C>T (p.Tyr317=) rs774619108 0.00003
NM_006876.3(B4GAT1):c.1209G>A (p.Glu403=) rs747107884 0.00002
NM_006876.3(B4GAT1):c.300C>T (p.His100=) rs746274346 0.00002
NM_006876.3(B4GAT1):c.496G>A (p.Ala166Thr) rs753511719 0.00002
NM_006876.3(B4GAT1):c.512G>C (p.Arg171Pro) rs767498508 0.00002
NM_006876.3(B4GAT1):c.717C>A (p.Gly239=) rs199653445 0.00002
NM_006876.3(B4GAT1):c.852G>A (p.Val284=) rs1209507604 0.00002
NM_006876.3(B4GAT1):c.993A>G (p.Ala331=) rs763537240 0.00002
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) rs1555016408 0.00001
NM_006876.3(B4GAT1):c.1090G>A (p.Glu364Lys) rs765579855 0.00001
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) rs1012499887 0.00001
NM_006876.3(B4GAT1):c.1242C>T (p.Arg414=) rs754397014 0.00001
NM_006876.3(B4GAT1):c.128A>G (p.Asp43Gly) rs1249218517 0.00001
NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu) rs756392214 0.00001
NM_006876.3(B4GAT1):c.186G>A (p.Gln62=) rs1196515362 0.00001
NM_006876.3(B4GAT1):c.192C>G (p.Arg64=) rs1172561316 0.00001
NM_006876.3(B4GAT1):c.204C>T (p.Ala68=) rs1200054256 0.00001
NM_006876.3(B4GAT1):c.210A>T (p.Gly70=) rs1213999550 0.00001
NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn) rs746966446 0.00001
NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr) rs1465193578 0.00001
NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly) rs1085307691 0.00001
NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser) rs1332907515 0.00001
NM_006876.3(B4GAT1):c.289C>T (p.Leu97=) rs1412219970 0.00001
NM_006876.3(B4GAT1):c.363C>T (p.Ser121=) rs947725699 0.00001
NM_006876.3(B4GAT1):c.36C>T (p.Tyr12=) rs571265305 0.00001
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter) rs767082700 0.00001
NM_006876.3(B4GAT1):c.468C>T (p.His156=) rs1163014613 0.00001
NM_006876.3(B4GAT1):c.478C>G (p.Pro160Ala) rs1188034363 0.00001
NM_006876.3(B4GAT1):c.511C>A (p.Arg171=) rs750370418 0.00001
NM_006876.3(B4GAT1):c.586G>T (p.Gly196Trp) rs560639654 0.00001
NM_006876.3(B4GAT1):c.601C>T (p.Leu201=) rs750284280 0.00001
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) rs113570160 0.00001
NM_006876.3(B4GAT1):c.667G>A (p.Ala223Thr) rs1855225079 0.00001
NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys) rs762690431 0.00001
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala) rs201440245 0.00001
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) rs1319732212 0.00001
NM_006876.3(B4GAT1):c.842T>G (p.Val281Gly) rs1449152242 0.00001
NM_006876.3(B4GAT1):c.861C>T (p.Phe287=) rs1296863347 0.00001
NM_006876.3(B4GAT1):c.897C>G (p.Thr299=) rs1356572423 0.00001
NM_006876.3(B4GAT1):c.952G>A (p.Val318Met) rs1008736415 0.00001
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) rs368961025 0.00001
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg) rs775935595 0.00001
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys) rs1441553616
NM_006876.3(B4GAT1):c.1045C>A (p.Arg349=) rs377282346
NM_006876.3(B4GAT1):c.1056+11G>A
NM_006876.3(B4GAT1):c.1056+15G>A
NM_006876.3(B4GAT1):c.1056+17G>A
NM_006876.3(B4GAT1):c.1056+6C>G rs1555016387
NM_006876.3(B4GAT1):c.1057-13T>C
NM_006876.3(B4GAT1):c.1060T>C (p.Cys354Arg) rs2134973952
NM_006876.3(B4GAT1):c.1062C>T (p.Cys354=)
NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro) rs878853035
NM_006876.3(B4GAT1):c.1074G>A (p.Val358=) rs768782904
NM_006876.3(B4GAT1):c.1077G>A (p.Ala359=) rs144759932
NM_006876.3(B4GAT1):c.1077G>C (p.Ala359=) rs144759932
NM_006876.3(B4GAT1):c.1089dup (p.Glu364Ter)
NM_006876.3(B4GAT1):c.108G>A (p.Leu36=) rs2134975722
NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met) rs898632587
NM_006876.3(B4GAT1):c.1116T>G (p.Val372=) rs1590633382
NM_006876.3(B4GAT1):c.1118A>T (p.His373Leu)
NM_006876.3(B4GAT1):c.1122G>A (p.Lys374=) rs754282235
NM_006876.3(B4GAT1):c.1137G>A (p.Ala379=)
NM_006876.3(B4GAT1):c.1151C>G (p.Pro384Arg) rs1443678248
NM_006876.3(B4GAT1):c.1152C>G (p.Pro384=)
NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=) rs767119927
NM_006876.3(B4GAT1):c.1176C>T (p.His392=) rs375281337
NM_006876.3(B4GAT1):c.1200C>G (p.Phe400Leu)
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter) rs921785357
NM_006876.3(B4GAT1):c.1240C>T (p.Arg414Cys) rs562459083
NM_006876.3(B4GAT1):c.132A>G (p.Gln44=) rs749485530
NM_006876.3(B4GAT1):c.133T>C (p.Tyr45His) rs780415381
NM_006876.3(B4GAT1):c.151C>T (p.Pro51Ser) rs1272704626
NM_006876.3(B4GAT1):c.153G>A (p.Pro51=) rs2134975644
NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser) rs1000733603
NM_006876.3(B4GAT1):c.162G>A (p.Arg54=) rs751180898
NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala) rs1555016653
NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg) rs1555016650
NM_006876.3(B4GAT1):c.185A>G (p.Gln62Arg) rs529539963
NM_006876.3(B4GAT1):c.237C>T (p.Tyr79=)
NM_006876.3(B4GAT1):c.240C>T (p.Arg80=)
NM_006876.3(B4GAT1):c.248G>T (p.Arg83Met)
NM_006876.3(B4GAT1):c.271G>A (p.Asp91Asn) rs1855236030
NM_006876.3(B4GAT1):c.292G>A (p.Ala98Thr)
NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr) rs1855240969
NM_006876.3(B4GAT1):c.324C>T (p.His108=)
NM_006876.3(B4GAT1):c.327G>T (p.Leu109=) rs752090290
NM_006876.3(B4GAT1):c.330G>A (p.Ser110=)
NM_006876.3(B4GAT1):c.342G>A (p.Glu114=)
NM_006876.3(B4GAT1):c.363C>G (p.Ser121=) rs947725699
NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val) rs1161795181
NM_006876.3(B4GAT1):c.409G>A (p.Val137Met) rs376914969
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) rs1565209689
NM_006876.3(B4GAT1):c.420C>T (p.Tyr140=) rs1163789115
NM_006876.3(B4GAT1):c.441C>G (p.Pro147=) rs1590634309
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile) rs374533716
NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile) rs374533716
NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser) rs1555016589
NM_006876.3(B4GAT1):c.471C>T (p.Leu157=)
NM_006876.3(B4GAT1):c.480C>G (p.Pro160=)
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) rs1565209634
NM_006876.3(B4GAT1):c.506A>T (p.Asp169Val) rs1855229583
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln) rs761732914
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val) rs771427950
NM_006876.3(B4GAT1):c.553G>A (p.Val185Ile) rs1855227445
NM_006876.3(B4GAT1):c.572G>A (p.Arg191Lys)
NM_006876.3(B4GAT1):c.576G>A (p.Val192=)
NM_006876.3(B4GAT1):c.582G>A (p.Gln194=)
NM_006876.3(B4GAT1):c.583C>T (p.Pro195Ser)
NM_006876.3(B4GAT1):c.590T>G (p.Ile197Ser)
NM_006876.3(B4GAT1):c.600G>A (p.Ala200=)
NM_006876.3(B4GAT1):c.603G>C (p.Leu201=) rs2134974950
NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)
NM_006876.3(B4GAT1):c.630C>T (p.Asn210=)
NM_006876.3(B4GAT1):c.646G>C (p.Ala216Pro)
NM_006876.3(B4GAT1):c.675G>A (p.Val225=)
NM_006876.3(B4GAT1):c.678C>A (p.Ile226=)
NM_006876.3(B4GAT1):c.679G>A (p.Asp227Asn) rs1288080924
NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu) rs774850290
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val) rs774850290
NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg) rs768060657
NM_006876.3(B4GAT1):c.69G>T (p.Ala23=)
NM_006876.3(B4GAT1):c.717C>G (p.Gly239=)
NM_006876.3(B4GAT1):c.748dup (p.Trp250fs) rs1379626331
NM_006876.3(B4GAT1):c.771G>A (p.Val257=)
NM_006876.3(B4GAT1):c.775G>A (p.Ala259Thr) rs766537591
NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu) rs1319732212
NM_006876.3(B4GAT1):c.787C>G (p.Arg263Gly) rs2134974665
NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys) rs1455459346
NM_006876.3(B4GAT1):c.79C>A (p.Leu27Met)
NM_006876.3(B4GAT1):c.79C>T (p.Leu27=)
NM_006876.3(B4GAT1):c.819C>G (p.Asn273Lys)
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_006876.3(B4GAT1):c.828G>A (p.Val276=) rs142956522
NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His) rs1855220609
NM_006876.3(B4GAT1):c.837C>T (p.Tyr279=)
NM_006876.3(B4GAT1):c.838C>A (p.Gln280Lys) rs1187161687
NM_006876.3(B4GAT1):c.85T>G (p.Tyr29Asp)
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
NM_006876.3(B4GAT1):c.870G>A (p.Gly290=) rs2134974531
NM_006876.3(B4GAT1):c.872T>G (p.Leu291Trp)
NM_006876.3(B4GAT1):c.888G>A (p.Gln296=)
NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro)
NM_006876.3(B4GAT1):c.955G>C (p.Val319Leu) rs2134974418
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) rs1555016420
NM_006876.3(B4GAT1):c.984C>T (p.Phe328=) rs368961025

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