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22 records found for search term Pmf1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156030981CV2243343single nucleotide variantNM_007221.4(PMF1):c.162-6680C>Tnot specified [RCV004112037]uncertain significance1156225640156225640Humanname
155930162CV2299777single nucleotide variantNM_007221.4(PMF1):c.162-6726C>Tnot specified [RCV004148935]uncertain significance1156225594156225594Humanname
156345178CV2372883single nucleotide variantNM_007221.4(PMF1):c.162-6707A>Gnot specified [RCV004223931]uncertain significance1156225613156225613Humanname
401866273CV2782811single nucleotide variantNM_007221.4(PMF1):c.162-6741G>Anot specified [RCV004361624]uncertain significance1156225579156225579Humanname
407485509CV3467645single nucleotide variantNM_007221.4(PMF1):c.162-6677C>Tnot specified [RCV004662345]uncertain significance1156225643156225643Humanname
598186402CV4003320single nucleotide variantNM_007221.4(PMF1):c.162-6690T>Cnot specified [RCV005395754]uncertain significance1156225630156225630Humanname
596947874CV3547461single nucleotide variantNM_007221.4(PMF1):c.378C>T (p.Ser126=)not provided [RCV004811765]likely benign1156236297156236297Humanname
329379005CV2460106single nucleotide variantNM_007221.4(PMF1):c.379G>A (p.Gly127Arg)not specified [RCV004273220]uncertain significance1156236298156236298Humanname
401730681CV2686645single nucleotide variantNM_007221.4(PMF1):c.508C>T (p.Arg170Trp)Inborn genetic diseases [RCV003289631]uncertain significance1156236427156236427Human1name
407485504CV3467644single nucleotide variantNM_007221.4(PMF1):c.610C>T (p.Pro204Ser)not specified [RCV004662344]uncertain significance1156239593156239593Humanname
407482506CV3467646single nucleotide variantNM_007221.4(PMF1):c.571C>T (p.His191Tyr)not specified [RCV004651510]uncertain significance1156239554156239554Humanname
597742953CV3580406single nucleotide variantNM_007221.4(PMF1):c.397C>G (p.Leu133Val)not specified [RCV004844971]uncertain significance1156236316156236316Humanname
598186395CV4003319single nucleotide variantNM_007221.4(PMF1):c.401A>C (p.His134Pro)not specified [RCV005395753]uncertain significance1156236320156236320Humanname
597742980CV3580410single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.17G>T (p.Ser6Ile)not specified [RCV004844975]uncertain significance1156213032156213032Humanname
156309094CV2366529single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.142A>C (p.Lys48Gln)not specified [RCV004208504]uncertain significance1156213157156213157Humanname
401748644CV2713143single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.260C>A (p.Ser87Tyr)not specified [RCV004316692]uncertain significance1156232418156232418Humanname
597742974CV3580409single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.265C>T (p.Arg89Trp)not specified [RCV004844974]uncertain significance1156232423156232423Humanname
155935334CV2225556single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.604A>G (p.Met202Val)not specified [RCV004100935]uncertain significance1156242823156242823Humanname
329374830CV2470754single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.446G>C (p.Gly149Ala)not specified [RCV004275987]uncertain significance1156236426156236426Humanname
405652040CV3376388single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.595C>G (p.Pro199Ala)not specified [RCV004509597]uncertain significance1156242814156242814Humanname
597742961CV3580407single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.548G>C (p.Cys183Ser)not specified [RCV004844972]uncertain significance1156242767156242767Humanname
598186411CV4003321single nucleotide variantNM_001199661.1(PMF1-BGLAP):c.655G>A (p.Gly219Ser)not specified [RCV005395755]uncertain significance1156243075156243075Humanname