List of variants in gene RECQL reported as likely pathogenic by Mendelics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter)	rs572725483	0.00004
NM_002907.4(RECQL):c.502-2A>G	rs1220859536	0.00001
NM_002907.4(RECQL):c.-45-1G>A	rs756434860
NM_002907.4(RECQL):c.1099-2A>G	rs1591973610
NM_002907.4(RECQL):c.215-20_223del	rs1591988737
NM_002907.4(RECQL):c.292G>T (p.Glu98Ter)	rs1010112210
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer)	rs1565570957
NM_002907.4(RECQL):c.675_676insGATGTAG (p.Gln226fs)	rs1591981391
NM_002907.4(RECQL):c.676delinsGATGTAGCATGT (p.Gln226fs)	rs1565569139
NM_002907.4(RECQL):c.677_678insTGTA (p.Gln226fs)	rs1591981379

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