ClinVar Miner

List of variants reported as likely pathogenic for Hypohidrotic X-linked ectodermal dysplasia

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_69176857)_(69247906_?)dup
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser) rs132630317
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys) rs2147519167
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) rs2020255486
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu) rs1602625000
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) rs749830948
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser) rs2020256386
NM_001399.5(EDA):c.1174T>C (p.Ter392Gln) rs2147519482
NM_001399.5(EDA):c.130del (p.Leu44fs)
NM_001399.5(EDA):c.161A>T (p.His54Leu) rs1569272194
NM_001399.5(EDA):c.163C>G (p.Leu55Val) rs1602221926
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) rs397516657
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
NM_001399.5(EDA):c.178T>C (p.Cys60Arg)
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn) rs132630308
NM_001399.5(EDA):c.191del (p.Leu64fs)
NM_001399.5(EDA):c.254dup (p.Thr86fs)
NM_001399.5(EDA):c.397-2A>T
NM_001399.5(EDA):c.434_438del (p.Pro145fs)
NM_001399.5(EDA):c.473A>G (p.Lys158Arg) rs982209417
NM_001399.5(EDA):c.476G>C (p.Arg159Thr) rs1556039084
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.5(EDA):c.4delinsAT (p.Gly2fs)
NM_001399.5(EDA):c.503-2del rs1602614385
NM_001399.5(EDA):c.526+1del rs1602614410
NM_001399.5(EDA):c.526+5G>A rs397516664
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.52_53insTGCGA (p.Arg18fs)
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.608C>T (p.Pro203Leu) rs2020138975
NM_001399.5(EDA):c.610G>A (p.Gly204Arg) rs2020139065
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) rs1057520742
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.625C>T (p.Pro209Ser)
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.641T>A (p.Met214Lys) rs1569404950
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
NM_001399.5(EDA):c.658C>G (p.Pro220Ala)
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.706G>A (p.Gly236Ser)
NM_001399.5(EDA):c.764G>A (p.Gly255Asp) rs1064793105
NM_001399.5(EDA):c.794-1G>A rs2147516240
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
NM_001399.5(EDA):c.872G>T (p.Gly291Val)
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) rs876657642
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
NM_001399.5(EDA):c.935T>C (p.Ile312Thr) rs1791938725
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp) rs1416551006
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr) rs1602624745

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