"3billion"[submitter] AND "SKIC3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687390	NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter)	SKIC3 (E948*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1687274	NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter)	SKIC3 (W77*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1 +1 more	GPathogenic/Likely pathogenic