List of variants in gene BCKDHB reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000006.11:g.(80881108_80910650)_(80982939_81053380)dup
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)	rs1005542482
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	rs751953459
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)	rs1772747408
NM_183050.4(BCKDHB):c.612dup (p.Ala205fs)

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