ClinVar Miner

List of variants reported as likely pathogenic for Hirschsprung disease by Centre for Genomic Sciences,University of Hong Kong

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_014957.5(DENND3):c.1959del (p.Lys653fs) rs1057519052
NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser) rs1057519323
NM_020170.4(NCLN):c.496C>T (p.Gln166Ter) rs1057519322
NM_152710.4(TBATA):c.157C>T (p.Arg53Cys) rs759944122

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