ClinVar Miner

List of variants in gene BCKDHB reported as benign by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_183050.4(BCKDHB):c.197-30A>C rs398124569
NM_183050.4(BCKDHB):c.951+48C>T rs3749896

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