ClinVar Miner

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

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_000533.5(PLP1):c.622+28C>G rs16984053 0.01887
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
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.173A>G (p.Tyr58Cys) rs2074490307
NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) rs1060499653
NM_000533.5(PLP1):c.191+6T>C
NM_000533.5(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_000533.5(PLP1):c.21T>A (p.Cys7Ter) rs1038021317
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_000533.5(PLP1):c.226G>C (p.Ala76Pro) rs2147764222
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter) rs1602382829
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000533.5(PLP1):c.384_393del (p.Gln129fs) rs1556267215
NM_000533.5(PLP1):c.4+5G>A
NM_000533.5(PLP1):c.410G>A (p.Arg137Gln)
NM_000533.5(PLP1):c.442C>T (p.His148Tyr) rs2147764634
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+159G>A rs1602383261
NM_000533.5(PLP1):c.453+164G>A rs1602383268
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.454-1G>A
NM_000533.5(PLP1):c.454-20C>A rs1328774826
NM_000533.5(PLP1):c.454-312C>G rs1602383723
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.49G>A (p.Ala17Thr) rs797045890
NM_000533.5(PLP1):c.505T>C (p.Cys169Arg)
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.544A>C (p.Thr182Pro) rs132630282
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_000533.5(PLP1):c.607G>A (p.Asp203Asn) rs132630284
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.634T>C (p.Trp212Arg) rs2147766937
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.665C>G (p.Ser222Cys) rs2147766999
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_000533.5(PLP1):c.694G>A (p.Glu232Lys)
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.74G>T (p.Cys25Phe) rs2147762985
NM_000533.5(PLP1):c.754del (p.Val252fs)
NM_000533.5(PLP1):c.762+1G>A rs2147768084
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_000533.5(PLP1):c.98G>T (p.Cys33Phe) rs1064794255

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