List of variants in gene RECQL4 studied for Rapadilino syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=)	rs4925828	0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro)	rs2721190	0.98532
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp)	rs4244612	0.41942
NM_004260.4(RECQL4):c.3236+13C>T	rs4244610	0.41215
NM_004260.4(RECQL4):c.1258+18G>A	rs4251689	0.38613
NM_004260.4(RECQL4):c.3393+8C>T	rs756627	0.37589
NM_004260.4(RECQL4):c.1621-15C>T	rs4244611	0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln)	rs4251691	0.36660
NM_004260.4(RECQL4):c.3502+24G>A	rs2279243	0.36505
NM_004260.4(RECQL4):c.738C>T (p.Ser246=)	rs4244613	0.36043
NM_004260.4(RECQL4):c.1390+2del	rs386833843	0.00043
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe)	rs200732690	0.00041
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)	rs386833845	0.00033
NM_004260.4(RECQL4):c.3072del (p.Val1026fs)	rs386833852	0.00005
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)	rs386833851	0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)	rs771538008	0.00004
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)	rs386833848	0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)	rs752729755	0.00003
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	rs386833844	0.00001
NM_004260.4(RECQL4):c.2059-1G>A	rs386833849	0.00001
NM_004260.4(RECQL4):c.1885_1888del (p.Arg629fs)	rs386833846
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs)	rs386833847
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu)	rs386833850
NM_004260.4(RECQL4):c.2296del (p.Arg766fs)	rs1827625671
NM_004260.4(RECQL4):c.3214A>T (p.Arg1072Ter)	rs386833853
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)	rs137853230
NM_004260.4(RECQL4):c.3561C>G (p.Tyr1187Ter)
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs)	rs386833854
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter)	rs137853231

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