List of variants reported as likely pathogenic for Rothmund-Thomson syndrome by CHU Sainte-Justine Research Center, University of Montreal

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022662.4(ANAPC1):c.2705-198C>T	rs999743155	0.00002
NM_022662.4(ANAPC1):c.[1778dup;2705-198C>T]
NM_022662.4(ANAPC1):c.[2705-198C>T;4373+1G>A]
NM_022662.4(ANAPC1):c.[2705-198C>T;4880_4881AC[1]]

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