List of variants in gene RECQL4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His)	rs34236392	0.00053
NM_004260.4(RECQL4):c.1391-4G>T	rs190388213	0.00016
NM_004260.4(RECQL4):c.230G>A (p.Cys77Tyr)	rs373705170	0.00011
NM_004260.4(RECQL4):c.1207T>C (p.Cys403Arg)	rs754788578	0.00006
NM_004260.4(RECQL4):c.1030C>T (p.Arg344Trp)	rs768850000	0.00004
NM_004260.4(RECQL4):c.970C>T (p.Pro324Ser)	rs781105713	0.00003
NM_004260.4(RECQL4):c.1131+8A>G	rs932213064	0.00001
NM_004260.4(RECQL4):c.1246T>C (p.Cys416Arg)
NM_004260.4(RECQL4):c.2002G>A (p.Ala668Thr)
NM_004260.4(RECQL4):c.3085G>A (p.Glu1029Lys)
NM_004260.4(RECQL4):c.3226G>T (p.Ala1076Ser)

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