ClinVar Miner

List of variants in gene combination PLP1, RAB9B reported as likely pathogenic for Pelizeaus-Merzbacher spectrum disorder

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.226G>C (p.Ala76Pro) rs2147764222
NM_000533.5(PLP1):c.442C>T (p.His148Tyr) rs2147764634
NM_000533.5(PLP1):c.505T>C (p.Cys169Arg)
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000533.5(PLP1):c.709T>G (p.Phe237Val) rs1602385663
NM_000533.5(PLP1):c.743C>A (p.Ala248Glu) rs917348091
NM_000533.5(PLP1):c.789C>G (p.Tyr263Ter)

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