ClinVar Miner

List of variants reported as likely pathogenic for Maple syrup urine disease

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Total variants: 97
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HGVS dbSNP
NC_000001.10:g.(?_100684313)_(100687428_?)del
NC_000006.11:g.(?_80910641)_(80982948_?)dup
NM_000056.4(BCKDHB):c.-22_4del (p.Met1fs) rs1554180692
NM_000056.4(BCKDHB):c.1090G>A (p.Asp364Asn) rs1060499715
NM_000056.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_000056.4(BCKDHB):c.139_149del (p.Gln47fs) rs1057517414
NM_000056.4(BCKDHB):c.169C>T (p.Gln57Ter) rs1554181192
NM_000056.4(BCKDHB):c.18_27del (p.Ala7fs) rs1057516781
NM_000056.4(BCKDHB):c.196+1G>C rs1554181203
NM_000056.4(BCKDHB):c.196+1G>T rs1554181203
NM_000056.4(BCKDHB):c.1A>T (p.Met1Leu) rs1005542482
NM_000056.4(BCKDHB):c.281_291del (p.Phe94fs) rs1380402024
NM_000056.4(BCKDHB):c.2T>C (p.Met1Thr) rs940391887
NM_000056.4(BCKDHB):c.343+2T>G rs1554184237
NM_000056.4(BCKDHB):c.364dup (p.Thr122fs) rs1554189447
NM_000056.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_000056.4(BCKDHB):c.368del (p.Pro123fs) rs1085307058
NM_000056.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867
NM_000056.4(BCKDHB):c.633+1G>C rs398124589
NM_000056.4(BCKDHB):c.633+1G>T rs398124589
NM_000056.4(BCKDHB):c.730del (p.Tyr244fs) rs1057516572
NM_000056.4(BCKDHB):c.742+1G>A rs1554190322
NM_000056.4(BCKDHB):c.811_824del (p.Asp271fs) rs1554194690
NM_000056.4(BCKDHB):c.840+1G>A rs760538465
NM_000056.4(BCKDHB):c.841-1G>C rs962489830
NM_000056.4(BCKDHB):c.853del (p.Arg285fs) rs1057517124
NM_000056.4(BCKDHB):c.952-2A>G rs1554205499
NM_000056.4(BCKDHB):c.964del (p.Thr322fs) rs1554205506
NM_000056.4(BCKDHB):c.97del (p.Arg33fs) rs1057516731
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs) rs1330793674
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857
NM_000709.4(BCKDHA):c.108+5G>C rs1568499702
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs)
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) rs765543886
NM_000709.4(BCKDHA):c.1167+1del rs1555767169
NM_000709.4(BCKDHA):c.1168-2A>G rs1555767285
NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter) rs201168715
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) rs374625613
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) rs376456598
NM_000709.4(BCKDHA):c.288+1G>A rs398123496
NM_000709.4(BCKDHA):c.288+9C>T rs398123497
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile) rs1555764014
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503
NM_000709.4(BCKDHA):c.647-1G>C rs753216964
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) rs199599175
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.853+1G>T rs1555767028
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515
NM_000709.4(BCKDHA):c.992dup (p.Tyr331Ter) rs1555767090
NM_001918.4(DBT):c.1165_1166del (p.Thr388_Thr389insTer) rs1553229661
NM_001918.4(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.4(DBT):c.1281+1G>T rs1557943881
NM_001918.4(DBT):c.1282-5_1282-2del rs1553228653
NM_001918.4(DBT):c.1291C>T (p.Arg431Ter) rs398123660
NM_001918.4(DBT):c.139_140TA[1] (p.Tyr47_Ser48delinsTer) rs1553233152
NM_001918.4(DBT):c.258_277del (p.Lys87fs) rs1553232197
NM_001918.4(DBT):c.311A>G (p.Asp104Gly) rs1553232188
NM_001918.4(DBT):c.360dup (p.Leu121fs) rs398123668
NM_001918.4(DBT):c.434-1G>A rs754004231
NM_001918.4(DBT):c.555+1G>A rs1553231037
NM_001918.4(DBT):c.634C>T (p.Gln212Ter) rs1553230841
NM_001918.4(DBT):c.670G>T (p.Glu224Ter) rs74103423
NM_001918.4(DBT):c.725C>G (p.Ser242Ter) rs201559874
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_001918.4(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001918.4(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_001918.4(DBT):c.939G>C (p.Lys313Asn) rs398123676
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr) rs1202365275
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter) rs774916970
NM_183050.4(BCKDHB):c.275-2A>G rs1554184224
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs) rs1057516795
NM_183050.4(BCKDHB):c.82_92GGCGCGGGGCT[3] (p.Phe35fs) rs398124601
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_183050.4(BCKDHB):c.840+1G>T rs760538465
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) rs1224101411

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