ClinVar Miner

List of variants in gene combination CHKB, CHKB-CPT1B reported by Undiagnosed Diseases Network, NIH

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)	rs373091820	0.00006
NM_005198.5(CHKB):c.224+5G>C	rs765251030	0.00002

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