ClinVar Miner

List of variants in gene EDARADD reported as uncertain significance for Inborn genetic diseases

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) rs757261515 0.00006
NM_145861.4(EDARADD):c.571G>A (p.Val191Met) rs375789023 0.00006
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg) rs1044285599 0.00003
NM_145861.4(EDARADD):c.323G>A (p.Arg108Gln) rs752275345 0.00002
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp) rs759461234 0.00001
NM_145861.4(EDARADD):c.254A>T (p.Asp85Val) rs376772514 0.00001
NM_145861.4(EDARADD):c.524C>T (p.Thr175Met) rs1307926920 0.00001
NM_145861.4(EDARADD):c.104C>A (p.Thr35Asn) rs2527052598
NM_145861.4(EDARADD):c.322C>T (p.Arg108Trp)
NM_145861.4(EDARADD):c.370G>C (p.Val124Leu) rs147501905
NM_145861.4(EDARADD):c.394T>G (p.Cys132Gly) rs2526927093
NM_145861.4(EDARADD):c.448T>A (p.Tyr150Asn) rs1360853625
NM_145861.4(EDARADD):c.461G>A (p.Cys154Tyr)
NM_145861.4(EDARADD):c.616C>T (p.Arg206Trp)
NM_145861.4(EDARADD):c.623G>A (p.Arg208His) rs376731607
NM_145861.4(EDARADD):c.640C>T (p.His214Tyr) rs1462821448
NM_145861.4(EDARADD):c.95A>G (p.Asp32Gly)

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