ClinVar Miner

List of variants in gene EDN3 studied for Hirschsprung disease

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_207034.3(EDN3):c.*915C>T rs11570357 0.01818
NM_207034.3(EDN3):c.*957C>T rs3026572 0.01630
NM_207034.3(EDN3):c.*864C>G rs3026573 0.01621
NM_207034.3(EDN3):c.*1012C>T rs11570358 0.01437
NM_207034.3(EDN3):c.*600A>G rs11570356 0.00906
NM_207034.3(EDN3):c.*165A>G rs11570353 0.00713
NM_207034.3(EDN3):c.-77T>A rs11570254 0.00577
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366 0.00474
NM_207034.3(EDN3):c.*1147A>G rs3026571 0.00371
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_207034.3(EDN3):c.*177C>A rs11570354 0.00096
NM_207034.3(EDN3):c.*171G>A rs3026575 0.00092
NM_207034.3(EDN3):c.*44T>C rs200872063 0.00068
NM_207034.3(EDN3):c.-44C>T rs368814466 0.00062
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_207034.3(EDN3):c.-164G>A rs749699689 0.00022
NM_207034.3(EDN3):c.*355A>G rs79786751 0.00017
NM_207034.3(EDN3):c.*531A>G rs11570355 0.00014
NM_207034.3(EDN3):c.-85G>A rs886056873 0.00009
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987 0.00009
NM_207034.3(EDN3):c.-86G>A rs755284881 0.00008
NM_207034.3(EDN3):c.*757G>A rs57724975 0.00006
NM_207034.3(EDN3):c.*916G>A rs1038241486 0.00006
NM_207034.3(EDN3):c.*962C>T rs138371508 0.00006
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035 0.00006
NM_207034.3(EDN3):c.*585C>T rs886056883 0.00004
NM_207034.3(EDN3):c.*606A>C rs1421722806 0.00004
NM_207034.3(EDN3):c.*708C>T rs746433345 0.00004
NM_207034.3(EDN3):c.651C>T (p.Pro217=) rs748005608 0.00004
NM_207034.3(EDN3):c.*1255C>T rs12322 0.00003
NM_207034.3(EDN3):c.*586G>A rs886056884 0.00003
NM_207034.3(EDN3):c.*904A>G rs886056887 0.00003
NM_207034.3(EDN3):c.*1517C>A rs1010065773 0.00002
NM_207034.3(EDN3):c.*756C>T rs763311172 0.00002
NM_207034.3(EDN3):c.*963G>A rs559849084 0.00002
NM_207034.3(EDN3):c.-120C>T rs886056872 0.00002
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_207034.1(EDN3):c.*1546T>C rs574618871 0.00001
NM_207034.3(EDN3):c.*1398C>T rs886056890 0.00001
NM_207034.3(EDN3):c.*476G>A rs1292701180 0.00001
NM_207034.3(EDN3):c.*679A>G rs886056885 0.00001
NM_207034.3(EDN3):c.543-7C>T rs886056874 0.00001
NM_207034.3(EDN3):c.685C>T (p.Pro229Ser) rs757559436 0.00001
NM_207034.3(EDN3):c.*1111G>A rs886056888
NM_207034.3(EDN3):c.*1123G>A rs376536945
NM_207034.3(EDN3):c.*1176C>T rs1990796585
NM_207034.3(EDN3):c.*1271A>G rs886056889
NM_207034.3(EDN3):c.*1293T>C rs536369470
NM_207034.3(EDN3):c.*143C>A rs71321536
NM_207034.3(EDN3):c.*143C>G rs71321536
NM_207034.3(EDN3):c.*143C>T rs71321536
NM_207034.3(EDN3):c.*144C>A rs886056880
NM_207034.3(EDN3):c.*144C>T rs886056880
NM_207034.3(EDN3):c.*145C>A rs886056881
NM_207034.3(EDN3):c.*146C>T rs11570352
NM_207034.3(EDN3):c.*147C>G rs576673862
NM_207034.3(EDN3):c.*147C>T rs576673862
NM_207034.3(EDN3):c.*149C>A rs565501608
NM_207034.3(EDN3):c.*571A>G rs886056882
NM_207034.3(EDN3):c.*716C>G rs531531144
NM_207034.3(EDN3):c.*96G>A rs886056875
NM_207034.3(EDN3):c.-115G>A rs1413431743
NM_207034.3(EDN3):c.257A>G (p.Glu86Gly) rs761348961
NM_207034.3(EDN3):c.262dup (p.Ala88fs) rs1568823467
NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207034.3(EDN3):c.623T>C (p.Leu208Ser) rs1306262526
NM_207034.3(EDN3):c.689G>A (p.Arg230His) rs144250756

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