ClinVar Miner

List of variants in gene BCKDHA reported by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter) rs2039242789
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.292_293del (p.Pro98fs)
NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter)
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter) rs1459441231
NM_000709.4(BCKDHA):c.429del (p.Ser144fs)
NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)
NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter) rs575806482
NM_000709.4(BCKDHA):c.655del (p.Ala219fs)
NM_000709.4(BCKDHA):c.695_696del (p.Val232fs)
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) rs1303770209
NM_000709.4(BCKDHA):c.755_756insA (p.Phe252fs)
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly) rs764247545
NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter) rs2039381583
NM_000709.4(BCKDHA):c.955del (p.Ala319fs)

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