ClinVar Miner

List of variants studied 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: 52
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HGVS dbSNP
NC_000023.10:g.(?_68836133)_(69255479_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)dup
NC_000023.10:g.(?_69080668)_(69177002_?)dup
NC_000023.10:g.(?_69243048)_(69255479_?)del
NC_000023.11:g.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)del
NM_001399.4(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.4(EDA):c.1070G>A (p.Arg357Gln) rs61747506
NM_001399.4(EDA):c.1094T>C (p.Val365Ala) rs397516654
NM_001399.4(EDA):c.1100delCinsTCAAGATGG (p.Ala367Valfs) rs1556110934
NM_001399.4(EDA):c.1106T>A (p.Ile369Asn)
NM_001399.4(EDA):c.1133C>T (p.Thr378Met)
NM_001399.4(EDA):c.167T>A (p.Leu56Gln)
NM_001399.4(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.4(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001399.4(EDA):c.228_234delCCGCCTTinsAA (p.Leu78Argfs) rs1555972067
NM_001399.4(EDA):c.239dup (p.Ser81Leufs) rs1555972071
NM_001399.4(EDA):c.242C>T (p.Ser81Leu)
NM_001399.4(EDA):c.301C>T (p.Pro101Ser) rs182251004
NM_001399.4(EDA):c.396+4dup
NM_001399.4(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.4(EDA):c.459dup (p.Val154Cysfs)
NM_001399.4(EDA):c.463C>T (p.Arg155Cys) rs132630312
NM_001399.4(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.4(EDA):c.467G>A (p.Arg156His) rs132630314
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.521_522delAAinsT (p.Lys174Ilefs) rs1556092261
NM_001399.4(EDA):c.526+5G>A
NM_001399.4(EDA):c.527-2A>T
NM_001399.4(EDA):c.546_581delTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC (p.Asn185_Pro196del) rs397516665
NM_001399.4(EDA):c.560dup (p.Pro188Serfs) rs1556098384
NM_001399.4(EDA):c.572_589delCAGGACCTCCAGGACCCC (p.Pro191_Pro196del) rs397516668
NM_001399.4(EDA):c.599dup (p.Gly201Argfs) rs1556098570
NM_001399.4(EDA):c.613A>T (p.Ile205Phe) rs1556098680
NM_001399.4(EDA):c.617C>T (p.Pro206Leu) rs1057520742
NM_001399.4(EDA):c.628G>T (p.Gly210Ter) rs1556098733
NM_001399.4(EDA):c.641T>A (p.Met214Lys)
NM_001399.4(EDA):c.659_676del18 (p.Pro220_Pro225del) rs876657686
NM_001399.4(EDA):c.663_697delTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGG (p.Pro222Thrfs) rs397516670
NM_001399.4(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.4(EDA):c.681_697delACCCCCTGGCCTCCAGG (p.Pro228Thrfs) rs1556098978
NM_001399.4(EDA):c.706+1G>A rs886039344
NM_001399.4(EDA):c.741G>A (p.Gln247=) rs886042183
NM_001399.4(EDA):c.766C>T (p.Gln256Ter) rs727504417
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.865C>T (p.Arg289Cys) rs879255551
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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