ClinVar Miner

List of variants studied for Pelizaeus-Merzbacher disease by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.543G>C (p.Trp181Cys) rs2147766040
NM_000533.5(PLP1):c.617T>A (p.Met206Lys)

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