ClinVar Miner

List of variants studied for Maple syrup urine disease by Mendelics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys) rs763645251 0.00002
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) rs914935376 0.00001
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1039-2A>G rs2128020522
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe) rs1582275277

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