ClinVar Miner

List of variants reported as likely pathogenic for maple syrup urine disease by Myriad Genetics, Inc.

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter) rs2032293119
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter) rs2032293586
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
NM_000108.5(DLD):c.19dup (p.Val7fs)
NM_000108.5(DLD):c.325A>T (p.Arg109Ter) rs2031930307
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
NM_000108.5(DLD):c.748G>T (p.Gly250Ter) rs2032247686
NM_000108.5(DLD):c.801del (p.Lys267fs)
NM_000108.5(DLD):c.802C>T (p.Gln268Ter) rs2032249629
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
NM_000108.5(DLD):c.904G>T (p.Glu302Ter) rs2032281944
NM_000108.5(DLD):c.936C>A (p.Cys312Ter) rs2032282970
NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter) rs2039242789
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.292_293del (p.Pro98fs)
NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter)
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter) rs1459441231
NM_000709.4(BCKDHA):c.429del (p.Ser144fs)
NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)
NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter) rs575806482
NM_000709.4(BCKDHA):c.655del (p.Ala219fs)
NM_000709.4(BCKDHA):c.695_696del (p.Val232fs)
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) rs1303770209
NM_000709.4(BCKDHA):c.755_756insA (p.Phe252fs)
NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter) rs2039381583
NM_000709.4(BCKDHA):c.955del (p.Ala319fs)
NM_001918.5(DBT):c.111_114del (p.Cys38fs)
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter) rs1661796496
NM_001918.5(DBT):c.126T>A (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.131C>G (p.Ser44Ter)
NM_001918.5(DBT):c.187C>T (p.Gln63Ter) rs1663814241
NM_001918.5(DBT):c.196C>T (p.Gln66Ter) rs1663814011
NM_001918.5(DBT):c.209C>A (p.Ser70Ter) rs398123664
NM_001918.5(DBT):c.298G>T (p.Glu100Ter) rs1663520073
NM_001918.5(DBT):c.325dup (p.Thr109fs)
NM_001918.5(DBT):c.511del (p.Thr171fs)
NM_001918.5(DBT):c.567_568del (p.Ser189fs)
NM_001918.5(DBT):c.573del (p.Val192fs)
NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)
NM_001918.5(DBT):c.70C>T (p.Gln24Ter) rs1664173086
NM_001918.5(DBT):c.743_744del (p.Thr248fs)
NM_001918.5(DBT):c.775_778del (p.Phe259fs)
NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)
NM_001918.5(DBT):c.904G>T (p.Gly302Ter)
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383
NM_183050.4(BCKDHB):c.163_164del (p.Thr55fs)
NM_183050.4(BCKDHB):c.211dup (p.Met71fs)
NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter) rs1772645594
NM_183050.4(BCKDHB):c.415_416del (p.Thr139fs)
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter) rs1772736212
NM_183050.4(BCKDHB):c.559_560del (p.Gly187fs)
NM_183050.4(BCKDHB):c.56_57del (p.Ala19fs)
NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter) rs1389512878
NM_183050.4(BCKDHB):c.691_693delinsAA (p.Asp231fs)
NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter) rs537988425
NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter) rs933828560
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter) rs1774369632
NM_183050.4(BCKDHB):c.949A>T (p.Lys317Ter)

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