ClinVar Miner

List of variants studied for inborn disorder of branched-chain amino acid metabolism by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000108.5(DLD):c.1310G>A (p.Gly437Asp)
NM_000709.4(BCKDHA):c.822del (p.Thr275fs)
NM_001352514.2(HLCS):c.1483G>A (p.Glu495Lys)

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