ClinVar Miner

List of variants studied for trichohepatoenteric syndrome by Aleixo Muise Laboratory, Hospital For Sick Children

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_006929.5(SKIC2):c.3188G>C (p.Arg1063Pro)
NM_006929.5(SKIC2):c.3629T>C (p.Leu1210Pro)
NM_014639.4(SKIC3):c.2795G>T (p.Gly932Val)
NM_014639.4(SKIC3):c.2921-1G>A

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