ClinVar Miner

List of variants in gene DLX3 reported as pathogenic for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) rs1555617226
NM_005220.3(DLX3):c.534G>C (p.Gln178His) rs2144182867
NM_005220.3(DLX3):c.561_562del (p.Tyr188fs) rs387906406
NM_005220.3(DLX3):c.571_574del (p.Gly191fs) rs387906405
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764

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