ClinVar Miner

List of variants in gene EDNRB studied for Hirschsprung disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) rs1566304640
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter) rs104894389
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387
NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs) rs769735757
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352

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