ClinVar Miner

List of variants studied for Rahman syndrome by Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005321.3(H1-4):c.414dup (p.Lys139fs) rs1581429403
NM_005321.3(H1-4):c.425_431delinsAGGGGGTT (p.Thr142fs) rs1581429434
NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs) rs1581429431
NM_005321.3(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_005321.3(H1-4):c.441dup (p.Lys148fs) rs1131690806
NM_005321.3(H1-4):c.447dup (p.Ser150fs) rs1581429514
NM_005321.3(H1-4):c.464dup (p.Lys157fs) rs1581429554

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