List of variants studied for trichohepatoenteric syndrome 1 by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014639.4(SKIC3):c.4081G>A (p.Ala1361Thr)	rs532313388	0.00044
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)	rs200067423	0.00019
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr)	rs140117667	0.00018
NM_014639.4(SKIC3):c.*1C>G
NM_014639.4(SKIC3):c.2778+2T>G
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
NM_014639.4(SKIC3):c.53_54del (p.Arg18fs)
NM_014639.4(SKIC3):c.828del (p.Ile276fs)	rs766378178

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