ClinVar Miner

List of variants reported as pathogenic for Riley-Day syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) rs1564084140
NM_003640.5(ELP1):c.349del (p.Trp117fs)

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