ClinVar Miner

List of variants studied for Rahman syndrome

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005321.3(H1-4):c.364_365del (p.Lys122fs) rs768525914
NM_005321.3(H1-4):c.365dup (p.Ala123fs) rs768525914
NM_005321.3(H1-4):c.396dup (p.Gly133fs) rs2113826875
NM_005321.3(H1-4):c.406_407insT (p.Lys136fs) rs1764192704
NM_005321.3(H1-4):c.407dup (p.Lys137fs) rs1764192628
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005321.3(H1-4):c.410_415delinsTCCT (p.Lys137fs)
NM_005321.3(H1-4):c.410dup (p.Pro138fs)
NM_005321.3(H1-4):c.414dup (p.Lys139fs) rs1581429403
NM_005321.3(H1-4):c.416_419dup (p.Ala141fs) rs2113826976
NM_005321.3(H1-4):c.416dup (p.Lys140fs) rs1764193257
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.429_430del (p.Ala144fs) rs1131690805
NM_005321.3(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_005321.3(H1-4):c.431dup (p.Ala145fs) rs1764194450
NM_005321.3(H1-4):c.433dup (p.Ala145fs) rs1554162872
NM_005321.3(H1-4):c.435dup (p.Thr146fs) rs1764194669
NM_005321.3(H1-4):c.436_458del (p.Thr146fs) rs1131690807
NM_005321.3(H1-4):c.440_441del (p.Pro147fs) rs1131690806
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.454_455insT (p.Lys152fs) rs1554162894
NM_005321.3(H1-4):c.455AGA[1] (p.Lys153del)
NM_005321.3(H1-4):c.464dup (p.Lys157fs) rs1581429554
NM_005321.3(H1-4):c.509_549del (p.Ala170fs) rs2113827331
NM_005321.3(H1-4):c.526G>T (p.Ala176Ser) rs1399451715
NM_005321.3(H1-4):c.548A>G (p.Lys183Arg)

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