ClinVar Miner

List of variants in gene BCKDHB reported as benign by Invitae

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) rs35470366 0.00394
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_183050.4(BCKDHB):c.447T>C (p.Phe149=) rs35969420 0.00185
NM_183050.4(BCKDHB):c.477+14C>T rs112504381 0.00185
NM_183050.4(BCKDHB):c.742+7A>T rs111903796 0.00185
NM_183050.4(BCKDHB):c.633+16T>C rs373772596 0.00089
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=) rs368345065 0.00019
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_183050.4(BCKDHB):c.197-11del rs200609312 0.00006
NM_183050.4(BCKDHB):c.275-4del
NM_183050.4(BCKDHB):c.344-4dup
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.634-14del
NM_183050.4(BCKDHB):c.634-5del rs1467662033

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