ClinVar Miner

List of variants studied for Greig cephalopolysyndactyly syndrome by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NC_000007.14:g.(?_41960949)_(42264268_?)del
NM_000168.6(GLI3):c.1018del (p.Ser340fs) rs1583500982
NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter) rs121917715
NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter) rs121917711
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp) rs121917712
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.4542_4545del (p.His1515fs) rs2128704804
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) rs121917713

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