List of variants in gene combination PYROXD1, RECQL reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_002907.4(RECQL):c.1675T>A (p.Tyr559Asn)	rs150680552	0.00014
NM_002907.4(RECQL):c.1855A>C (p.Asn619His)	rs762888181	0.00006
NM_002907.4(RECQL):c.1696A>G (p.Thr566Ala)	rs753260342	0.00002
NM_002907.4(RECQL):c.1889T>C (p.Met630Thr)	rs1172091042	0.00002
NM_002907.4(RECQL):c.1732C>T (p.Leu578Phe)	rs777565272	0.00001
NM_002907.4(RECQL):c.1831G>C (p.Gly611Arg)	rs541752188	0.00001
NM_002907.4(RECQL):c.1865A>C (p.Asn622Thr)	rs745427954	0.00001
NM_002907.4(RECQL):c.1939G>A (p.Asp647Asn)	rs762901544	0.00001
GRCh37/hg19 12p12.1(chr12:21567572-21623649)x1
GRCh37/hg19 12p12.1(chr12:21567573-21623649)x1
NM_002907.4(RECQL):c.1694C>T (p.Ala565Val)	rs1248986058
NM_002907.4(RECQL):c.1760C>T (p.Thr587Ile)	rs138651198
NM_002907.4(RECQL):c.1767A>G (p.Gln589=)
NM_002907.4(RECQL):c.1797+7G>A
NM_002907.4(RECQL):c.1848G>A (p.Glu616=)	rs1369932572
NM_002907.4(RECQL):c.1876_1877delinsGC (p.Lys626Ala)	rs1942904755
NM_002907.4(RECQL):c.1931G>T (p.Arg644Ile)	rs751738687

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