ClinVar Miner

List of variants reported as uncertain significance for Pelizaeus-Merzbacher disease by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000533.5(PLP1):c.191+4A>G
NM_000533.5(PLP1):c.212T>A (p.Val71Asp)
NM_000533.5(PLP1):c.223A>C (p.Thr75Pro)
NM_000533.5(PLP1):c.226_231dup (p.Ser77_Phe78insAlaSer)
NM_000533.5(PLP1):c.230C>A (p.Ser77Tyr)
NM_000533.5(PLP1):c.377C>T (p.Ser126Phe)
NM_000533.5(PLP1):c.378C>T (p.Ser126=)
NM_000533.5(PLP1):c.384C>T (p.Gly128=)
NM_000533.5(PLP1):c.418C>T (p.His140Tyr) rs132630287
NM_000533.5(PLP1):c.446C>T (p.Pro149Leu)
NM_000533.5(PLP1):c.453+7A>G
NM_000533.5(PLP1):c.476T>C (p.Leu159Pro)
NM_000533.5(PLP1):c.697-3C>A

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