ClinVar Miner

List of variants studied for X-linked hypohidrotic ectodermal dysplasia by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001399.5(EDA):c.60A>C (p.Arg20=) rs183801635 0.00033
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_001399.5(EDA):c.870C>T (p.Ser290=) rs760869403 0.00007
NM_001399.5(EDA):c.1080C>T (p.Ile360=) rs375844339 0.00004
NM_001399.5(EDA):c.1137C>T (p.Phe379=) rs780582849 0.00004
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.371A>G (p.His124Arg) rs751470511 0.00003
NM_001399.5(EDA):c.135T>C (p.Gly45=) rs766017052 0.00002
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) rs182251004 0.00002
NM_001399.5(EDA):c.396+10C>T rs754163471 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001399.5(EDA):c.234T>C (p.Leu78=) rs1569272277 0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=) rs769141538 0.00001
NM_001399.5(EDA):c.1104C>T (p.Asp368=) rs150292516
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) rs2020255486
NM_001399.5(EDA):c.354G>C (p.Pro118=) rs762842929
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.97C>T (p.Arg33Trp) rs1168030930

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