ClinVar Miner

List of variants reported as likely benign for trichohepatoenteric syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006929.4(SKIC2):c.-370C>T rs17201466 0.03192
NM_006929.5(SKIC2):c.1173G>A (p.Pro391=) rs61761945 0.00370
NM_006929.5(SKIC2):c.2203-12A>G rs114974766 0.00222
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met) rs144147284 0.00185
NM_006929.5(SKIC2):c.254C>T (p.Thr85Met) rs146717555 0.00028
NM_006929.5(SKIC2):c.3159T>C (p.Pro1053=) rs149774440 0.00016
NM_006929.5(SKIC2):c.585C>T (p.Asp195=) rs145042380 0.00014

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