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

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

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00013
NM_000709.4(BCKDHA):c.288+1G>A	rs398123496	0.00002
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.647-1G>C	rs753216964	0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	rs137852871	0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)	rs137852875	0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)	rs753698250	0.00001
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)	rs764247545
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)	rs794727847
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)	rs398123509

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