ClinVar Miner

List of variants in gene EDARADD studied for Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_145861.4(EDARADD):c.62-41A>G rs669710 0.53840
NM_145861.4(EDARADD):c.161-33G>C rs636048 0.44828
NM_145861.4(EDARADD):c.120+1G>A rs879255553
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter) rs766500689
NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) rs1659704734
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) rs200017138
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) rs1657345576

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