List of variants in gene BCKDK reported as uncertain significance for autosomal recessive disease

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_005881.4(BCKDK):c.552G>C (p.Lys184Asn)	rs774214869	0.00015
NM_005881.4(BCKDK):c.1131G>A (p.Ala377=)	rs151090898	0.00013
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr)	rs200689545	0.00011
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)	rs371078966	0.00007
NM_005881.4(BCKDK):c.373G>A (p.Val125Met)	rs141282419	0.00006
NM_005881.4(BCKDK):c.556G>A (p.Val186Ile)	rs188092823	0.00006
NM_005881.4(BCKDK):c.10G>C (p.Ala4Pro)	rs775430762	0.00001
NM_005881.4(BCKDK):c.1196G>A (p.Arg399Gln)	rs766922526	0.00001
NM_005881.4(BCKDK):c.305T>C (p.Ile102Thr)	rs556255123	0.00001
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)	rs774302251	0.00001
NM_005881.4(BCKDK):c.563A>G (p.Tyr188Cys)	rs761322791	0.00001
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)	rs760851100	0.00001
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val)	rs762482788	0.00001
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val)	rs201164597	0.00001
NM_005881.4(BCKDK):c.917A>G (p.Asp306Gly)	rs200253972	0.00001
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly)	rs199838222
NM_005881.4(BCKDK):c.117C>G (p.His39Gln)
NM_005881.4(BCKDK):c.1202G>A (p.Arg401His)
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)	rs1596808163
NM_005881.4(BCKDK):c.196-8del	rs1596808347
NM_005881.4(BCKDK):c.31C>T (p.Pro11Ser)	rs764651763
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr)	rs746459006
NM_005881.4(BCKDK):c.34G>A (p.Gly12Arg)	rs1414828775
NM_005881.4(BCKDK):c.364A>G (p.Ile122Val)
NM_005881.4(BCKDK):c.500C>A (p.Thr167Asn)	rs2057399952
NM_005881.4(BCKDK):c.544-8C>G	rs1337089151
NM_005881.4(BCKDK):c.743A>G (p.Asn248Ser)
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu)	rs2057409516
NM_005881.4(BCKDK):c.846-3T>A	rs118042732
NM_005881.4(BCKDK):c.846-3T>C	rs118042732

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