List of variants studied for Pelizaeus-Merzbacher disease by OMIM

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Total variants: 16

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HGVS	dbSNP
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile)	rs132630289
NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr)	rs132630296
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg)	rs132630285
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)	rs11543022
NM_000533.5(PLP1):c.453+2T>C	rs1556267388
NM_000533.5(PLP1):c.453+4A>G	rs1569427707
NM_000533.5(PLP1):c.467C>T (p.Thr156Ile)	rs132630280
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg)	rs132630279
NM_000533.5(PLP1):c.544A>C (p.Thr182Pro)	rs132630282
NM_000533.5(PLP1):c.607G>C (p.Asp203His)	rs132630284
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser)	rs132630278
NM_000533.5(PLP1):c.655G>T (p.Val219Phe)	rs132630281
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro)	rs132630283
NM_000533.5(PLP1):c.762+3G>T	rs1569428537
PLP1, DEL	rs0
PLP1, DUP	rs0

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