ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly) rs777114840 0.00001
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971

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