ClinVar Miner

List of variants reported as pathogenic for Maple syrup urine disease by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln) rs773048903 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) rs148905512 0.00001
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) rs869312125
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) rs869312124
NM_001318975.1(BCKDHB):c.-70_-15+207del rs1554180622
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) rs869312132
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.197-2A>G rs869312127
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile) rs869312128
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn) rs869312130
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala) rs869312131

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