ClinVar Miner

List of variants in gene PLP1, RAB9B studied for Pelizaeus-Merzbacher disease

Included ClinVar conditions (2):
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Total variants: 25
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HGVS dbSNP
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) rs1569427311
NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr) rs132630296
NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) rs1060499653
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp) rs1569427243
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.518C>G (p.Pro173Arg) rs1556269029
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.617T>G (p.Met206Arg) rs1556269487
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.658T>G (p.Cys220Gly) rs1556270312
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_001128834.2(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_001128834.2(PLP1):c.384_393del (p.Gln129fs) rs1556267215

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