ClinVar Miner

List of variants in gene EDNRB studied for Hirschsprung disease, susceptibility to, 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.*63G>A rs986500037
NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln) rs1878741475
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg) rs1878958050

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