List of variants in gene RECQL4 reported as pathogenic by Sema4, Sema4

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)	rs137853229	0.00009
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)	rs386833851	0.00004
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)	rs752729755	0.00003

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