ClinVar Miner

List of variants in gene PRPH2 reported by GeneDx

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_000322.5(PRPH2):c.829-261G>T rs415906 0.77340
NM_000322.5(PRPH2):c.*1375C>T rs405043 0.77180
NM_000322.5(PRPH2):c.*1357C>T rs405059 0.77171
NM_000322.5(PRPH2):c.*543G>A rs432753 0.77168
NM_000322.5(PRPH2):c.*762C>T rs1758213 0.77165
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NC_000006.12:g.42722950A>C rs9381213 0.59764
NM_000322.5(PRPH2):c.582-67T>A rs3818086 0.56178
NM_000322.5(PRPH2):c.581+81C>T rs6928781 0.32828
NC_000006.12:g.42722776G>A rs11754813 0.32278
NM_000322.5(PRPH2):c.582-225C>T rs13214506 0.25566
NM_000322.5(PRPH2):c.582-85G>A rs34722725 0.25301
NM_000322.5(PRPH2):c.828+241del rs67162942 0.25118
NM_000322.5(PRPH2):c.582-58A>G rs3818087 0.24683
NM_000322.5(PRPH2):c.*145G>A rs835 0.24219
NM_000322.5(PRPH2):c.*898C>A rs3176988 0.22759
NM_000322.5(PRPH2):c.*1001C>A rs45550933 0.22757
NM_000322.5(PRPH2):c.829-48C>T rs41273820 0.22114
NM_000322.5(PRPH2):c.828+244T>A rs555942731 0.07839
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_000322.5(PRPH2):c.*132C>T rs77363417 0.02609
NM_000322.5(PRPH2):c.*174C>T rs73426412 0.02603
NM_000322.5(PRPH2):c.*276G>C rs76754927 0.02448
NM_000322.5(PRPH2):c.*1370A>T rs1804284 0.02154
NM_000322.5(PRPH2):c.*839G>A rs73426405 0.02142
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe) rs150381599 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.250G>A (p.Asp84Asn) rs368257452 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) rs779414078 0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000322.4:c.+13C>T
NM_000322.5(PRPH2):c.*483_*484dup rs55851577
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000322.5(PRPH2):c.*484dup rs55851577
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.174_184del (p.His58fs) rs1554270848
NM_000322.5(PRPH2):c.215G>C (p.Cys72Ser) rs375090109
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter) rs61755776
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro) rs1761911206
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu) rs1761910611
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn) rs1131691378
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro) rs1800117244
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.655C>G (p.Pro219Ala)
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.661C>T (p.Pro221Ser)
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.707dup (p.Tyr236Ter) rs1582764765
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.806C>G (p.Thr269Arg) rs781212034
NM_000322.5(PRPH2):c.823T>C (p.Phe275Leu) rs1359326125
NM_000322.5(PRPH2):c.828+176TATT[5] rs59389246
NM_000322.5(PRPH2):c.828+176TATT[7] rs59389246
NM_000322.5(PRPH2):c.828+260del rs58317577
NM_000322.5(PRPH2):c.828+284_828+285del rs67449353
NM_000322.5(PRPH2):c.829-120C>G rs389999
NM_000322.5(PRPH2):c.829-230A>G rs433286

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