ClinVar Miner

List of variants reported as likely pathogenic for Trichohepatoenteric syndrome

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp) rs769075304 0.00001
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
NM_006929.5(SKIC2):c.1065-2A>G
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
NM_006929.5(SKIC2):c.1637del (p.Gly546fs) rs1772636752
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter) rs200271795
NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)
NM_014639.4(SKIC3):c.1134+1G>T rs2112344385
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
NM_014639.4(SKIC3):c.2114+2T>A
NM_014639.4(SKIC3):c.2114+5G>A
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs) rs2112260281
NM_014639.4(SKIC3):c.772C>T (p.Gln258Ter) rs1580193741

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