ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant hypohidrotic ectodermal dysplasia by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.175-2A>G rs757233170 0.00001
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) rs755654853 0.00001
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg) rs1696610650
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met) rs1696608635
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) rs1553444917
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser) rs1696805635
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) rs879255629

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