ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.157C>T (p.Leu53Phe) rs974684362 0.00002
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) rs182251004 0.00002
NM_001399.5(EDA):c.1163C>A (p.Ala388Asp) rs755527924 0.00001
NM_001399.5(EDA):c.1022C>T (p.Thr341Ile)
NM_001399.5(EDA):c.106G>A (p.Glu36Lys)
NM_001399.5(EDA):c.1075A>G (p.Lys359Glu)
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn) rs1569407331
NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr) rs2020256932
NM_001399.5(EDA):c.11C>G (p.Pro4Arg)
NM_001399.5(EDA):c.148T>G (p.Ser50Ala) rs1931939988
NM_001399.5(EDA):c.149C>G (p.Ser50Trp)
NM_001399.5(EDA):c.396+5G>C rs1931970978
NM_001399.5(EDA):c.410A>T (p.Asn137Ile) rs2147419026
NM_001399.5(EDA):c.440C>G (p.Ser147Cys) rs2147419080
NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser)
NM_001399.5(EDA):c.532A>G (p.Lys178Glu)
NM_001399.5(EDA):c.613A>T (p.Ile205Phe) rs1556098680
NM_001399.5(EDA):c.628G>C (p.Gly210Arg) rs1556098733
NM_001399.5(EDA):c.646C>T (p.Pro216Ser) rs1556098806
NM_001399.5(EDA):c.741G>T (p.Gln247His) rs886042183
NM_001399.5(EDA):c.794A>C (p.Asp265Ala)
NM_001399.5(EDA):c.803G>T (p.Gly268Val)
NM_001399.5(EDA):c.814A>G (p.Asn272Asp) rs1556106742
NM_001399.5(EDA):c.827G>C (p.Arg276Pro)
NM_001399.5(EDA):c.853A>G (p.Lys285Glu) rs1556106974
NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln) rs2020226101
NM_001399.5(EDA):c.885_890del (p.Leu296_Val297del) rs2147516497
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp) rs2020226899
NM_001399.5(EDA):c.914G>A (p.Ser305Asn) rs2020227357
NM_001399.5(EDA):c.924+5G>A rs2020227617
NM_001399.5(EDA):c.924+8C>A rs370406516
NM_001399.5(EDA):c.941T>C (p.Phe314Ser) rs1556110180
NM_001399.5(EDA):c.950T>G (p.Phe317Cys) rs2020251589
NM_001399.5(EDA):c.973G>T (p.Asp325Tyr) rs2147519024
NM_001399.5(EDA):c.97C>T (p.Arg33Trp) rs1168030930

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