List of variants in gene BCKDHB reported as likely pathogenic by Counsyl

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: 42

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HGVS	dbSNP	gnomAD frequency
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00015
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs)	rs776270090	0.00001
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)	rs774916970	0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)	rs1005542482	0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)	rs776631396	0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	rs398124593	0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)	rs398124594	0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)	rs1057516795	0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	rs398124603	0.00001
NM_183050.4(BCKDHB):c.-22_4del (p.Met1fs)	rs1582146275
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	rs398124560
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)	rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)	rs190867671
NM_183050.4(BCKDHB):c.139_149del (p.Gln47fs)	rs1057517414
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	rs1554181192
NM_183050.4(BCKDHB):c.18_27del (p.Ala7fs)	rs1057516781
NM_183050.4(BCKDHB):c.196+1G>C	rs1554181203
NM_183050.4(BCKDHB):c.196+1G>T	rs1554181203
NM_183050.4(BCKDHB):c.275-2A>G	rs1554184224
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)	rs1380402024
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)	rs940391887
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	rs398124573
NM_183050.4(BCKDHB):c.343+2T>G	rs1554184237
NM_183050.4(BCKDHB):c.364dup (p.Thr122fs)	rs1554189447
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)	rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)	rs398124581
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	rs398124587
NM_183050.4(BCKDHB):c.633+1G>C	rs398124589
NM_183050.4(BCKDHB):c.633+1G>T	rs398124589
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)	rs1057516572
NM_183050.4(BCKDHB):c.742+1G>A	rs1554190322
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)	rs1554194690
NM_183050.4(BCKDHB):c.840+1G>A	rs760538465
NM_183050.4(BCKDHB):c.840+1G>T	rs760538465
NM_183050.4(BCKDHB):c.840+2T>G	rs398124596
NM_183050.4(BCKDHB):c.841-1G>C	rs962489830
NM_183050.4(BCKDHB):c.853del (p.Arg285fs)	rs1057517124
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	rs398124601
NM_183050.4(BCKDHB):c.952-2A>G	rs1554205499
NM_183050.4(BCKDHB):c.964del (p.Thr322fs)	rs1554205506
NM_183050.4(BCKDHB):c.97del (p.Arg33fs)	rs1057516731
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	rs1224101411

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