List of variants in gene BCKDHA reported as uncertain significance by Natera, Inc.

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000709.4(BCKDHA):c.288C>T (p.His96=)	rs148571328	0.00043
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)	rs141086188	0.00036
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)	rs137960127	0.00024
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)	rs371343548	0.00019
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp)	rs760281271	0.00014
NM_000709.4(BCKDHA):c.1167+4A>C	rs546655391	0.00006
NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp)	rs1218567341	0.00005
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)	rs576803251	0.00005
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)	rs201168715	0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)	rs188135164	0.00004
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)	rs201366184	0.00003
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)	rs750729027	0.00003
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)	rs750023394	0.00003
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)	rs201991385	0.00003
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)	rs187669174	0.00003
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)	rs398123491	0.00002
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)	rs34956071	0.00002
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)	rs772457864	0.00002
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln)	rs972403437	0.00002
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser)	rs766755823	0.00001
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)	rs375957868	0.00001
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His)	rs535975575	0.00001
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)	rs764284154	0.00001
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser)	rs2039284627	0.00001
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp)	rs766174938	0.00001
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)	rs532361185	0.00001
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)	rs771360993	0.00001
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His)	rs138261404	0.00001
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu)	rs1430080785
NM_000709.4(BCKDHA):c.428G>A (p.Gly143Glu)	rs2039284027
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys)	rs371408960
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)	rs398123505
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)	rs2039381646
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)	rs398123514

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