ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002582.4(PARN):c.448C>T (p.Arg150Cys) rs777558836 0.00004
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) rs1667208458

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