ClinVar Miner

List of variants studied for inborn disorder of branched-chain amino acid metabolism by National Newborn Screening Laboratory, Hospital Nacional de Niños

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val) rs867033248 0.00002
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter) rs774306610 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.484+1G>A rs2122122667
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938

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