ClinVar Miner

List of variants reported as likely pathogenic for ectodermal dysplasia syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_207118.3(GTF2H5):c.36-2A>G rs765378190 0.00001
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe) rs1554596418
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453

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