List of variants studied for Rothmund-Thomson syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)	rs386833845	0.00033
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)	rs137853229	0.00009
NC_000010.11:g.68413754_68420303del
NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)
NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)
NM_001080449.3(DNA2):c.2208+2456_2403-18del
NM_001080449.3(DNA2):c.442-768_587+648del
NM_001080449.3(DNA2):c.588-2214A>G
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)	rs377589237
NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter)	rs1564804479
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr)	rs754735053
NM_004260.4(RECQL4):c.221_222del (p.Glu74fs)	rs773325186
NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs)	rs1554898257
NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)	rs1554896308

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