List of variants reported as likely pathogenic for trichohepatoenteric syndrome 2

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter)	rs759511516	0.00003
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)	rs768503878	0.00002
NM_006929.5(SKIC2):c.1297C>T (p.Arg433Cys)	rs750250320	0.00001
NM_006929.5(SKIC2):c.1404-2A>G	rs1772611373
NM_006929.5(SKIC2):c.1647+1G>A	rs1772638226
NM_006929.5(SKIC2):c.2203-1G>A
NM_006929.5(SKIC2):c.2977dup (p.Met993fs)	rs1582187890
NM_006929.5(SKIC2):c.3188G>C (p.Arg1063Pro)
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del)	rs1582192007
NM_006929.5(SKIC2):c.3629T>C (p.Leu1210Pro)

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