List of variants in gene BCKDHB reported by PreventionGenetics, part of Exact Sciences

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_183050.4(BCKDHB):c.197-11G>T	rs9448894	0.42545
NM_183050.4(BCKDHB):c.344-24C>T	rs73479953	0.06567
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)	rs143427811	0.00086
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)	rs9448884	0.00068
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)	rs147719822	0.00026
NM_183050.4(BCKDHB):c.197-11del	rs200609312	0.00006
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)	rs534975518	0.00001
NM_183050.4(BCKDHB):c.325G>C (p.Gly109Arg)
NM_183050.4(BCKDHB):c.360dup (p.Asn121Ter)
NM_183050.4(BCKDHB):c.951+48C>T	rs3749896
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541

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