ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 7p14.1(chr7:41430185-42807426)x1
NM_000168.6(GLI3):c.4283dup (p.Pro1429fs) rs2128704974
NM_002334.4(LRP4):c.2814+1G>A

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