ClinVar Miner

List of variants reported for Trichohepatoenteric syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014639.4(SKIC3):c.642+1G>A	rs538894487	0.00001
NM_014639.4(SKIC3):c.2387del (p.Thr796fs)	rs754197837
NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)	rs2530727382

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