ClinVar Miner

List of variants reported as uncertain significance for Hirschsprung disease by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001201397.1(EDNRB):c.245G>A (p.Arg82Gln) rs2070591
NM_207034.2(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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