List of variants studied for congenital limb malformation by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001003722.2(GLE1):c.433-10A>G	rs386833693	0.00082
NM_004260.4(RECQL4):c.1390+2del	rs386833843	0.00043
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.1910T>C (p.Phe637Ser)	rs386833848	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.3214A>T (p.Arg1072Ter)	rs386833853
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)	rs137853230
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs)	rs386833854

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