ClinVar Miner

List of variants in gene PLP1, RAB9B studied for Inborn genetic diseases

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24299
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697 0.00150
NM_000533.5(PLP1):c.578C>A (p.Thr193Asn) rs1364496996 0.00005
NM_000533.5(PLP1):c.193A>G (p.Ile65Val) rs759106420 0.00001
NM_000533.5(PLP1):c.285C>G (p.Gly95=) rs751404730 0.00001
NM_000533.5(PLP1):c.110A>C (p.His37Pro) rs2522301501
NM_000533.5(PLP1):c.250G>T (p.Ala84Ser) rs1569427598
NM_000533.5(PLP1):c.2T>C (p.Met1Thr) rs864622194
NM_000533.5(PLP1):c.2T>G (p.Met1Arg) rs864622194
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000533.5(PLP1):c.4+4A>C rs2522269044
NM_000533.5(PLP1):c.409C>G (p.Arg137Gly) rs132630295
NM_000533.5(PLP1):c.416G>A (p.Cys139Tyr) rs2522308446
NM_000533.5(PLP1):c.429A>G (p.Gly143=) rs2522308535
NM_000533.5(PLP1):c.561T>G (p.Ile187Met) rs2522314924
NM_000533.5(PLP1):c.623G>A (p.Gly208Asp) rs2522317749
NM_000533.5(PLP1):c.64A>G (p.Thr22Ala)
NM_000533.5(PLP1):c.672_674del (p.Leu225del) rs2522318178
NM_000533.5(PLP1):c.696+1G>A rs113897548
NM_000533.5(PLP1):c.829T>C (p.Phe277Leu) rs2147769293

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