ClinVar Miner

List of variants studied for Greig cephalopolysyndactyly syndrome by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.455C>T (p.Pro152Leu) rs778060205 0.00005
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.2962G>C (p.Gly988Arg) rs765236732

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