List of variants reported as uncertain significance for Pelizeaus-Merzbacher spectrum disorder

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000533.5(PLP1):c.191+6T>C
NM_000533.5(PLP1):c.398A>T (p.His133Leu)
NM_000533.5(PLP1):c.4+5G>A
NM_000533.5(PLP1):c.410G>A (p.Arg137Gln)
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp)	rs1569427243
NM_000533.5(PLP1):c.454-20C>A	rs1328774826
NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)	rs797045890
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg)	rs1556269029
NM_000533.5(PLP1):c.543G>C (p.Trp181Cys)	rs2147766040
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)	rs746949269
NM_000533.5(PLP1):c.74G>T (p.Cys25Phe)	rs2147762985
NM_000533.5(PLP1):c.762+1G>A	rs2147768084
NM_000533.5(PLP1):c.98G>T (p.Cys33Phe)	rs1064794255
NM_020435.4(GJC2):c.-20G>C	rs1558116949
Single allele

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