ClinVar Miner

List of variants in gene EDNRB reported as risk factor for Hirschsprung disease

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter) rs104894389
NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs) rs769735757

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