ClinVar Miner

List of variants in gene BCKDHB reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs) rs776270090 0.00001
NM_183050.4(BCKDHB):c.1038+2T>C rs762419044 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) rs398124582 0.00001
NC_000006.11:g.(?_80910641)_(80982948_?)dup
NC_000006.12:g.(?_80273125)_(80273231_?)del
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.274+1G>T
NM_183050.4(BCKDHB):c.274+2T>C
NM_183050.4(BCKDHB):c.343+1G>C rs1770503105
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)
NM_183050.4(BCKDHB):c.634-2A>G
NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly)
NM_183050.4(BCKDHB):c.742+1G>A rs1554190322
NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.840+1G>A rs760538465
NM_183050.4(BCKDHB):c.841-1G>C rs962489830
NM_183050.4(BCKDHB):c.841-1G>T
NM_183050.4(BCKDHB):c.841-2A>G
NM_183050.4(BCKDHB):c.951+1G>A rs756647770
NM_183050.4(BCKDHB):c.952-2A>G rs1554205499
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr) rs1777825845

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