List of variants reported as likely pathogenic for Rothmund-Thomson syndrome type 2

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)	rs746636748	0.00013
NM_004260.4(RECQL4):c.2650del (p.Gln884fs)	rs1203766600	0.00005
NM_004260.4(RECQL4):c.3393+2T>G	rs557284122	0.00002
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs)	rs1554903709
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs)	rs1586821679
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)	rs34134064
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)	rs766312203
NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg)	rs774274636
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs)	rs1586824938

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