ClinVar Miner

List of variants reported as uncertain significance for Maple syrup urine disease by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 248
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_000709.4(BCKDHA):c.375+4C>T rs377496852 0.00025
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp) rs760281271 0.00014
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp) rs140612545 0.00011
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_000709.4(BCKDHA):c.1167+4A>C rs546655391 0.00006
NM_001918.5(DBT):c.1127G>A (p.Arg376His) rs150934375 0.00006
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp) rs1218567341 0.00005
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) rs557058340 0.00005
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr) rs777868718 0.00005
NM_001918.5(DBT):c.572T>G (p.Val191Gly) rs146894954 0.00005
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys) rs201168715 0.00004
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr) rs373078413 0.00004
NM_000709.4(BCKDHA):c.607G>A (p.Val203Ile) rs988176395 0.00004
NM_000709.4(BCKDHA):c.996-26A>G rs757986569 0.00004
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val) rs574122134 0.00004
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val) rs769876670 0.00003
NM_000709.4(BCKDHA):c.1100A>C (p.Tyr367Ser) rs777794357 0.00002
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser) rs34956071 0.00002
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln) rs972403437 0.00002
NM_001918.5(DBT):c.34A>G (p.Arg12Gly) rs1215222732 0.00002
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly) rs371131253 0.00002
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val) rs867033248 0.00002
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro) rs763434607 0.00002
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser) rs766755823 0.00001
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln) rs375957868 0.00001
NM_000709.4(BCKDHA):c.1160G>A (p.Arg387His) rs1052314774 0.00001
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His) rs535975575 0.00001
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys) rs753452195 0.00001
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys) rs764284154 0.00001
NM_000709.4(BCKDHA):c.424G>A (p.Val142Met) rs750226738 0.00001
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser) rs2039284627 0.00001
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp) rs766174938 0.00001
NM_000709.4(BCKDHA):c.497A>T (p.Tyr166Phe) rs2039337230 0.00001
NM_000709.4(BCKDHA):c.499C>T (p.Arg167Trp) rs398123502 0.00001
NM_000709.4(BCKDHA):c.59C>T (p.Ala20Val) rs1159645644 0.00001
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val) rs532361185 0.00001
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu) rs771360993 0.00001
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His) rs138261404 0.00001
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) rs201109190 0.00001
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe) rs1339599491 0.00001
NM_001918.5(DBT):c.1217G>T (p.Gly406Val) rs767154711 0.00001
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp) rs796051945 0.00001
NM_001918.5(DBT):c.1385G>A (p.Arg462His) rs750594890 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001918.5(DBT):c.61C>T (p.Arg21Cys) rs398123673 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001918.5(DBT):c.781A>G (p.Lys261Glu) rs926492799 0.00001
NM_001918.5(DBT):c.815A>G (p.Lys272Arg) rs1662393960 0.00001
NM_001918.5(DBT):c.836G>T (p.Cys279Phe) rs1662392597 0.00001
NM_001918.5(DBT):c.884A>G (p.Lys295Arg) rs139216072 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile) rs761138547 0.00001
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val) rs398124563 0.00001
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn) rs970365846 0.00001
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) rs914935376 0.00001
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly) rs150769284 0.00001
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val) rs374253889 0.00001
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala) rs780722473 0.00001
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile) rs398124575 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu) rs398124585 0.00001
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln) rs761827220 0.00001
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe) rs762438504 0.00001
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser) rs370331553 0.00001
NC_000001.10:g.(?_100316599)_(101709564_?)dup
NC_000006.11:g.(?_80877375)_(80881127_?)dup
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NM_000709.3(BCKDHA):c.111_122del12 rs751877248
NM_000709.4(BCKDHA):c.1011C>G (p.Ser337Arg) rs1417360930
NM_000709.4(BCKDHA):c.1031C>T (p.Ala344Val)
NM_000709.4(BCKDHA):c.1073A>G (p.Asp358Gly)
NM_000709.4(BCKDHA):c.108+4A>G
NM_000709.4(BCKDHA):c.109-15T>A
NM_000709.4(BCKDHA):c.1180T>C (p.Phe394Leu)
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
NM_000709.4(BCKDHA):c.1196G>A (p.Arg399Gln)
NM_000709.4(BCKDHA):c.1218C>T (p.Asn406=)
NM_000709.4(BCKDHA):c.1285C>T (p.Arg429Cys)
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu) rs1430080785
NM_000709.4(BCKDHA):c.148G>C (p.Asp50His)
NM_000709.4(BCKDHA):c.173C>T (p.Ser58Leu)
NM_000709.4(BCKDHA):c.202A>G (p.Ile68Val)
NM_000709.4(BCKDHA):c.203T>A (p.Ile68Asn)
NM_000709.4(BCKDHA):c.208C>T (p.Pro70Ser)
NM_000709.4(BCKDHA):c.214G>A (p.Val72Ile)
NM_000709.4(BCKDHA):c.239G>A (p.Arg80His)
NM_000709.4(BCKDHA):c.241G>A (p.Val81Ile)
NM_000709.4(BCKDHA):c.246G>A (p.Met82Ile)
NM_000709.4(BCKDHA):c.251G>A (p.Arg84Gln)
NM_000709.4(BCKDHA):c.276C>T (p.Ser92=)
NM_000709.4(BCKDHA):c.282C>A (p.Asp94Glu)
NM_000709.4(BCKDHA):c.28G>T (p.Val10Phe) rs1307495247
NM_000709.4(BCKDHA):c.303G>C (p.Lys101Asn)
NM_000709.4(BCKDHA):c.35G>A (p.Arg12Gln) rs769659202
NM_000709.4(BCKDHA):c.371G>C (p.Arg124Pro) rs752700457
NM_000709.4(BCKDHA):c.375+5G>A
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys) rs371408960
NM_000709.4(BCKDHA):c.456C>A (p.Asp152Glu)
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile) rs754327984
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser) rs1191782907
NM_000709.4(BCKDHA):c.623C>T (p.Pro208Leu)
NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)
NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)
NM_000709.4(BCKDHA):c.677C>T (p.Ala226Val)
NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)
NM_000709.4(BCKDHA):c.709G>A (p.Gly237Ser)
NM_000709.4(BCKDHA):c.731G>T (p.Gly244Val)
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
NM_000709.4(BCKDHA):c.838C>T (p.Arg280Cys)
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val) rs886054461
NM_000709.4(BCKDHA):c.925G>T (p.Ala309Ser)
NM_000709.4(BCKDHA):c.949G>T (p.Ala317Ser)
NM_000709.4(BCKDHA):c.968C>G (p.Pro323Arg) rs779466371
NM_000709.4(BCKDHA):c.978C>G (p.Ile326Met)
NM_001918.5(DBT):c.1002G>T (p.Gln334His)
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser) rs1296308942
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu) rs1661798658
NM_001918.5(DBT):c.1210-3T>A
NM_001918.5(DBT):c.1212T>G (p.Ile404Met) rs2100779467
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
NM_001918.5(DBT):c.1276A>G (p.Ile426Val) rs1471693880
NM_001918.5(DBT):c.1283C>T (p.Ala428Val) rs2100761237
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
NM_001918.5(DBT):c.14G>A (p.Arg5His)
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del) rs771945254
NM_001918.5(DBT):c.16A>G (p.Met6Val)
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
NM_001918.5(DBT):c.182G>A (p.Arg61His)
NM_001918.5(DBT):c.215T>C (p.Ile72Thr) rs565879664
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr) rs1557956678
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
NM_001918.5(DBT):c.433+6G>A
NM_001918.5(DBT):c.433+8A>G
NM_001918.5(DBT):c.449TTG[1] (p.Val151del) rs773087765
NM_001918.5(DBT):c.451G>A (p.Val151Ile) rs1282153768
NM_001918.5(DBT):c.45G>T (p.Gly15=)
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
NM_001918.5(DBT):c.4G>A (p.Ala2Thr) rs760664814
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
NM_001918.5(DBT):c.533G>A (p.Arg178His)
NM_001918.5(DBT):c.538C>G (p.Leu180Val) rs2100804291
NM_001918.5(DBT):c.577G>A (p.Gly193Ser) rs398123671
NM_001918.5(DBT):c.595A>G (p.Arg199Gly) rs2100799976
NM_001918.5(DBT):c.667G>A (p.Val223Ile)
NM_001918.5(DBT):c.668T>G (p.Val223Gly) rs772801811
NM_001918.5(DBT):c.676A>G (p.Met226Val)
NM_001918.5(DBT):c.709G>C (p.Val237Leu) rs947272551
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
NM_001918.5(DBT):c.787A>G (p.Met263Val) rs753685282
NM_001918.5(DBT):c.82_84dup (p.Asn28dup) rs746916491
NM_001918.5(DBT):c.853A>C (p.Thr285Pro) rs1662391542
NM_001918.5(DBT):c.86T>C (p.Val29Ala) rs1473273369
NM_001918.5(DBT):c.883A>C (p.Lys295Gln) rs1158505606
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
NM_001918.5(DBT):c.932T>C (p.Phe311Ser) rs1662388035
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
NM_001918.5(DBT):c.962A>T (p.Gln321Leu) rs758048048
NM_001918.5(DBT):c.963G>C (p.Gln321His)
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup) rs1557946237
NM_001918.5(DBT):c.979G>A (p.Ala327Thr)
NM_001918.5(DBT):c.991G>A (p.Glu331Lys) rs2100788336
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
NM_183050.4(BCKDHB):c.1038+5A>T
NM_183050.4(BCKDHB):c.1039-10C>G rs760262704
NM_183050.4(BCKDHB):c.1039-10_1039-9del
NM_183050.4(BCKDHB):c.1039-9dup rs2128020517
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys) rs989873156
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr) rs2128020569
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu) rs1770038350
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile) rs774255890
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val) rs1554216344
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu) rs1554216354
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly) rs1185514016
NM_183050.4(BCKDHB):c.1162A>G (p.Lys388Glu)
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
NM_183050.4(BCKDHB):c.131A>G (p.Asp44Gly) rs2127699100
NM_183050.4(BCKDHB):c.171G>C (p.Gln57His) rs773031829
NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
NM_183050.4(BCKDHB):c.196+5G>A rs398124568
NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg) rs2127726102
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
NM_183050.4(BCKDHB):c.274+5C>T rs1770414545
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser) rs1770499193
NM_183050.4(BCKDHB):c.320C>G (p.Thr107Ser)
NM_183050.4(BCKDHB):c.338A>G (p.Lys113Arg) rs770263755
NM_183050.4(BCKDHB):c.343+2dup
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)
NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu) rs1772648897
NM_183050.4(BCKDHB):c.444G>C (p.Gln148His) rs2127773506
NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp) rs2127773518
NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg) rs2127773530
NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu) rs537680296
NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala)
NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro) rs1562104694
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
NM_183050.4(BCKDHB):c.772A>T (p.Ile258Phe)
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro) rs1769081318
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala) rs2127823416
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro) rs1582342243
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly) rs1774369297
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala) rs775427993
NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro) rs1210713694
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup) rs1554180793
NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)
NM_183050.4(BCKDHB):c.951+4T>C rs778135997
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe) rs1562193767
NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln)
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly) rs769446376
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)

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