List of variants in gene combination CHKB, CHKB-CPT1B reported as pathogenic for hereditary skeletal muscle disorder

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_005198.5(CHKB):c.581G>A (p.Arg194Gln)	rs139818555	0.00008
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)	rs373091820	0.00006
NM_005198.5(CHKB):c.1031+3G>C	rs751176079	0.00001
NM_005198.5(CHKB):c.1003G>T (p.Glu335Ter)	rs2146652075
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp)	rs766848672
NM_005198.5(CHKB):c.116C>A (p.Ser39Ter)	rs387907068
NM_005198.5(CHKB):c.163G>T (p.Glu55Ter)	rs1045370021
NM_005198.5(CHKB):c.187C>T (p.Arg63Ter)
NM_005198.5(CHKB):c.216C>G (p.Tyr72Ter)	rs80067609
NM_005198.5(CHKB):c.224+1G>A
NM_005198.5(CHKB):c.268del (p.His90fs)	rs1569054508
NM_005198.5(CHKB):c.331C>T (p.Gln111Ter)
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)	rs1569054086
NM_005198.5(CHKB):c.400C>T (p.Gln134Ter)	rs1333100080
NM_005198.5(CHKB):c.446del (p.Pro149fs)
NM_005198.5(CHKB):c.458dup (p.Leu153fs)	rs786205117
NM_005198.5(CHKB):c.463del (p.Thr155fs)	rs2146656234
NM_005198.5(CHKB):c.536del (p.Met179fs)
NM_005198.5(CHKB):c.556del (p.His186fs)
NM_005198.5(CHKB):c.565_568del (p.Phe189fs)	rs752436924
NM_005198.5(CHKB):c.598del (p.Gln200fs)	rs757369551
NM_005198.5(CHKB):c.677+1G>A	rs786205118
NM_005198.5(CHKB):c.677+1G>C
NM_005198.5(CHKB):c.737-1G>C	rs2146653379
NM_005198.5(CHKB):c.808_809insC (p.Tyr270fs)	rs2146653193
NM_005198.5(CHKB):c.810T>A (p.Tyr270Ter)	rs750764003
NM_005198.5(CHKB):c.922C>T (p.Gln308Ter)	rs387907069
NM_005198.5(CHKB):c.925C>T (p.Gln309Ter)	rs139059552
NM_005198.5(CHKB):c.939del (p.Arg314fs)
NM_005198.5(CHKB):c.964_967del (p.Lys322fs)	rs771681297

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