List of variants in gene BCKDHB studied for not specified

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_183050.4(BCKDHB):c.841-73C>T	rs3828753	0.60052
NM_183050.4(BCKDHB):c.197-11G>T	rs9448894	0.42545
NM_183050.4(BCKDHB):c.197-25A>G	rs9448893	0.35785
NM_183050.4(BCKDHB):c.344-24C>T	rs73479953	0.06567
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)	rs35470366	0.00394
NM_183050.4(BCKDHB):c.742+16A>G	rs140373763	0.00220
NM_183050.4(BCKDHB):c.447T>C (p.Phe149=)	rs35969420	0.00185
NM_183050.4(BCKDHB):c.477+14C>T	rs112504381	0.00185
NM_183050.4(BCKDHB):c.742+7A>T	rs111903796	0.00185
NM_183050.4(BCKDHB):c.840+33A>G	rs112060016	0.00121
NM_183050.4(BCKDHB):c.634-32T>C	rs113814307	0.00120
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)	rs9448884	0.00068
NM_183050.4(BCKDHB):c.*2186A>G	rs938094875	0.00036
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)	rs368345065	0.00019
NM_183050.4(BCKDHB):c.987C>T (p.His329=)	rs138670449	0.00019
NM_183050.4(BCKDHB):c.197-11del	rs200609312	0.00006
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)	rs398124591	0.00004
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser)	rs955755199	0.00002
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=)	rs934559515	0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)	rs398124576	0.00001
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=)	rs1488608145	0.00001
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=)	rs904277226
NM_183050.4(BCKDHB):c.1165A>C (p.Met389Leu)
NM_183050.4(BCKDHB):c.196+8C>G	rs1337392511
NM_183050.4(BCKDHB):c.197-30A>C	rs398124569
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)	rs776631396
NM_183050.4(BCKDHB):c.478-15C>T	rs772227275
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)	rs376293687
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln)	rs79761867
NM_183050.4(BCKDHB):c.951+48C>T	rs3749896

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