ClinVar Miner

List of variants reported as uncertain significance for X-linked hypohidrotic ectodermal dysplasia by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001399.4(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.4(EDA):c.1106T>A (p.Ile369Asn)
NM_001399.4(EDA):c.167T>A (p.Leu56Gln)
NM_001399.4(EDA):c.242C>T (p.Ser81Leu)
NM_001399.4(EDA):c.301C>T (p.Pro101Ser) rs182251004
NM_001399.4(EDA):c.476G>C (p.Arg159Thr) rs1556039084
NM_001399.4(EDA):c.479G>A (p.Ser160Asn) rs1556039088
NM_001399.4(EDA):c.613A>T (p.Ile205Phe) rs1556098680
NM_001399.4(EDA):c.641T>A (p.Met214Lys)
NM_001399.4(EDA):c.814A>G (p.Asn272Asp) rs1556106742
NM_001399.4(EDA):c.853A>G (p.Lys285Glu) rs1556106974
NM_001399.4(EDA):c.941T>C (p.Phe314Ser) rs1556110180
NM_001399.4(EDA):c.970G>A (p.Val324Met) rs1556110308
NM_001399.4(EDA):c.97C>T (p.Arg33Trp)
NM_001399.4(EDA):c.986T>C (p.Phe329Ser)

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