ClinVar Miner

List of variants reported as uncertain significance for Pelizaeus-Merzbacher disease

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Total variants: 3

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HGVS	dbSNP
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)	rs797045890
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg)	rs1556269029
NM_020435.4(GJC2):c.-20G>C	rs1558116949

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