ClinVar Miner

Variants in gene BCKDHA with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_000709.4(BCKDHA):c.996-26A>G rs757986569 0.00004
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys) rs367823977 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly) rs764247545

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