ClinVar Miner

Variants in gene BCKDHB with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) rs9448884 0.00068
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) rs142858149 0.00039
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) rs537988425 0.00002
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687

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