ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_017777.4(MKS1):c.1273+1G>C rs933577333

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