ClinVar Miner

List of variants in gene PMPCB studied for Inborn genetic diseases

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp) rs144744182 0.00172
NM_004279.3(PMPCB):c.626G>A (p.Arg209Gln) rs145718159 0.00025
NM_004279.3(PMPCB):c.355C>A (p.Leu119Met) rs202239518 0.00015
NM_004279.3(PMPCB):c.661A>G (p.Ile221Val) rs149104855 0.00014
NM_004279.3(PMPCB):c.838A>T (p.Thr280Ser) rs145484475 0.00013
NM_004279.3(PMPCB):c.625C>T (p.Arg209Trp) rs376730233 0.00011
NM_004279.3(PMPCB):c.1034A>G (p.Asn345Ser) rs763277777 0.00009
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro) rs146343535 0.00005
NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys) rs145596167 0.00004
NM_004279.3(PMPCB):c.894A>G (p.Ile298Met) rs1202651794 0.00004
NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys) rs138186996 0.00003
NM_004279.3(PMPCB):c.973C>T (p.Arg325Cys) rs775655777 0.00003
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys) rs367832736 0.00002
NM_004279.3(PMPCB):c.1385G>T (p.Ser462Ile) rs559942322 0.00002
NM_004279.3(PMPCB):c.1348A>G (p.Ile450Val) rs1817776297 0.00001
NM_004279.3(PMPCB):c.1356A>T (p.Glu452Asp) rs758619180 0.00001
NM_004279.3(PMPCB):c.229T>C (p.Ser77Pro) rs748274168 0.00001
NM_004279.3(PMPCB):c.479T>C (p.Ile160Thr) rs148787640 0.00001
NM_004279.3(PMPCB):c.587A>C (p.Tyr196Ser) rs749942456 0.00001
NM_004279.3(PMPCB):c.698A>G (p.His233Arg) rs943454537 0.00001
NM_004279.3(PMPCB):c.947C>T (p.Ala316Val) rs1817665608 0.00001
NM_004279.3(PMPCB):c.1029T>G (p.His343Gln) rs933577985
NM_004279.3(PMPCB):c.1300C>T (p.Pro434Ser) rs1563450588
NM_004279.3(PMPCB):c.1325T>C (p.Ile442Thr) rs1586052815
NM_004279.3(PMPCB):c.1336A>C (p.Asn446His)
NM_004279.3(PMPCB):c.1406G>A (p.Gly469Asp) rs2484903433
NM_004279.3(PMPCB):c.1417C>G (p.Gln473Glu) rs1293291219
NM_004279.3(PMPCB):c.1438A>C (p.Ile480Leu)
NM_004279.3(PMPCB):c.1452G>A (p.Met484Ile)
NM_004279.3(PMPCB):c.167C>G (p.Pro56Arg)
NM_004279.3(PMPCB):c.212C>T (p.Ser71Leu)
NM_004279.3(PMPCB):c.278A>G (p.Asn93Ser)
NM_004279.3(PMPCB):c.392A>G (p.Asn131Ser) rs2484868136
NM_004279.3(PMPCB):c.416C>A (p.Thr139Asn)
NM_004279.3(PMPCB):c.617C>G (p.Ala206Gly)
NM_004279.3(PMPCB):c.682G>A (p.Asp228Asn) rs1369398382
NM_004279.3(PMPCB):c.688A>G (p.Ile230Val) rs2484879738
NM_004279.3(PMPCB):c.781G>A (p.Gly261Ser) rs751554433
NM_004279.3(PMPCB):c.820C>G (p.Leu274Val) rs2484887985
NM_004279.3(PMPCB):c.832A>C (p.Lys278Gln)
NM_004279.3(PMPCB):c.853C>T (p.Arg285Cys) rs771314986
NM_004279.3(PMPCB):c.980T>C (p.Phe327Ser) rs1203302546
NM_004279.3(PMPCB):c.995A>G (p.Asn332Ser) rs1266194339

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