ClinVar Miner

List of variants in gene BCKDHA reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000709.4(BCKDHA):c.485-28G>A rs114178789 0.00186
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) rs151227241 0.00013
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514 0.00006
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) rs557058340 0.00005
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00004
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000709.4(BCKDHA):c.910T>C (p.Phe304Leu) rs398123511 0.00003
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys) rs886042356 0.00002
NM_000709.4(BCKDHA):c.1168-33G>A rs398123488 0.00001
NM_000709.4(BCKDHA):c.249C>T (p.Asp83=) rs398123495 0.00001
NM_000709.4(BCKDHA):c.499C>T (p.Arg167Trp) rs398123502 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000709.4(BCKDHA):c.*33C>G rs398123485
NM_000709.4(BCKDHA):c.1168-31C>T rs398123487
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.376-20G>A rs398123500
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.817A>G (p.Thr273Ala) rs398123506
NM_000709.4(BCKDHA):c.853+17C>A rs398123507

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