ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.1133dup (p.Pro379fs) rs2128732074
NM_000168.6(GLI3):c.1793dup (p.Asn598fs) rs2128712235
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192
NM_000168.6(GLI3):c.3667_3670delinsATCAA (p.Tyr1223fs) rs2128705420
NM_000168.6(GLI3):c.4172del (p.Gly1391fs) rs2128705042
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter) rs2128742651

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