ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP
NM_207034.2(EDN3):c.-268G>C rs868738564
NM_207034.2(EDN3):c.-359T>A rs886056871
NM_207034.3(EDN3):c.*1111G>A rs886056888
NM_207034.3(EDN3):c.*1255C>T rs12322
NM_207034.3(EDN3):c.*1271A>G rs886056889
NM_207034.3(EDN3):c.*1293T>C rs536369470
NM_207034.3(EDN3):c.*138_*139insCC rs886056876
NM_207034.3(EDN3):c.*1398C>T rs886056890
NM_207034.3(EDN3):c.*139_*140del rs1555850390
NM_207034.3(EDN3):c.*139del rs886056877
NM_207034.3(EDN3):c.*143C>T rs71321536
NM_207034.3(EDN3):c.*144C>T rs886056880
NM_207034.3(EDN3):c.*145C>A rs886056881
NM_207034.3(EDN3):c.*147C>G rs576673862
NM_207034.3(EDN3):c.*148_*149del rs11475273
NM_207034.3(EDN3):c.*44T>C rs200872063
NM_207034.3(EDN3):c.*571A>G rs886056882
NM_207034.3(EDN3):c.*585C>T rs886056883
NM_207034.3(EDN3):c.*586G>A rs886056884
NM_207034.3(EDN3):c.*679A>G rs886056885
NM_207034.3(EDN3):c.*756C>T rs763311172
NM_207034.3(EDN3):c.*831G>A rs886056886
NM_207034.3(EDN3):c.*904A>G rs886056887
NM_207034.3(EDN3):c.*96G>A rs886056875
NM_207034.3(EDN3):c.-120C>T rs886056872
NM_207034.3(EDN3):c.-164G>A rs749699689
NM_207034.3(EDN3):c.-44C>T rs368814466
NM_207034.3(EDN3):c.-85G>A rs886056873
NM_207034.3(EDN3):c.257A>G (p.Glu86Gly) rs761348961
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035
NM_207034.3(EDN3):c.543-7C>T rs886056874
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987

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