ClinVar Miner

List of variants studied for X-linked hypohidrotic ectodermal dysplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001399.5(EDA):c.157C>T (p.Leu53Phe) rs974684362 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665

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