ClinVar Miner

List of variants in gene combination PYROXD1, RECQL reported as uncertain significance by Breakthrough Genomics, Breakthrough Genomics

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_002907.4(RECQL):c.1798-2A>T	rs756192830	0.00123
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)	rs142038240	0.00088

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