List of variants in gene BCKDHA reported as pathogenic by Eurofins NTD LLC (GA)

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: 23

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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.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_000709.4(BCKDHA):c.288+9C>T	rs398123497	0.00003
NM_000709.4(BCKDHA):c.288+1G>A	rs398123496	0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	rs375785084	0.00002
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	rs182923857	0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	rs398123503	0.00001
NM_000709.4(BCKDHA):c.854-2A>G	rs760494152	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.117del (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.1302C>A (p.Tyr434Ter)	rs398123491
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)	rs398123492
NM_000709.4(BCKDHA):c.1314C>A (p.Tyr438Ter)	rs398123493
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	rs398123494
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs)	rs398123504
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)	rs794727847
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)	rs398123509
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs)	rs398123510
NM_000709.4(BCKDHA):c.917del (p.Val306fs)	rs398123512
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter)	rs398123513

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