ClinVar Miner

List of variants studied for Riley-Day syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter) rs1317221906 0.00001
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)

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