List of variants reported as pathogenic for Trichohepatoenteric syndrome 1 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)	rs200067423	0.00019
NM_014639.4(SKIC3):c.1632+1del	rs1060499527
NM_014639.4(SKIC3):c.2251C>T (p.Gln751Ter)	rs387907148
NM_014639.4(SKIC3):c.2515+1G>C	rs1060499528
NM_014639.4(SKIC3):c.2578-7_2578-3del	rs746874042
NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter)	rs534237033
NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)
NM_014639.4(SKIC3):c.439C>T (p.Gln147Ter)	rs387907147
NM_014639.4(SKIC3):c.4620+1G>C	rs370373017
SKIC3, IVS28AS, G-A, -2

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