ClinVar Miner

List of variants reported as uncertain significance for Vici syndrome by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451

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