List of variants in gene BCKDHB reported by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00010
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu)	rs148905512	0.00001
NM_001318975.1(BCKDHB):c.-70_-15+207del	rs1554180622
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)	rs796051939
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)	rs869312129
NM_183050.4(BCKDHB):c.197-2A>G	rs869312127
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)	rs869312126
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile)	rs869312128
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn)	rs869312130
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala)	rs869312131

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