ClinVar Miner

List of variants in gene EDN3 reported as uncertain significance for Hirschsprung Disease, Dominant

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_207034.2(EDN3):c.-359T>A rs886056871 0.00046
NM_207034.2(EDN3):c.-268G>C rs868738564 0.00006
NM_207034.3(EDN3):c.*831G>A rs886056886 0.00004
NM_207034.3(EDN3):c.*138_*139insCC rs886056876
NM_207034.3(EDN3):c.*139_*140del rs1555850390
NM_207034.3(EDN3):c.*139del rs886056877
NM_207034.3(EDN3):c.*148_*149del rs11475273

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