ClinVar Miner

List of variants in gene PRPH2 reported as likely pathogenic

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Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00026
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln) rs762660751 0.00006
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly) rs543703718 0.00003
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly) rs202230698 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile) rs199572514 0.00002
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.38G>A (p.Arg13Gln) rs745427463 0.00001
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys) rs1761910060 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.622G>A (p.Gly208Ser) rs901479607 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile) rs369507460 0.00001
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) rs61755766 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000322.5(PRPH2):c.850C>T (p.Arg284Cys) rs370994796 0.00001
NC_000006.11:g.(?_42672083)_(42672369_?)dup
NC_000006.11:g.42663546_42670306delins(?)
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) rs1799984208
NM_000322.5(PRPH2):c.112G>T (p.Gly38Ter) rs1761918414
NM_000322.5(PRPH2):c.174_184del (p.His58fs) rs1554270848
NM_000322.5(PRPH2):c.1A>G (p.Met1Val) rs1761921867
NM_000322.5(PRPH2):c.202G>C (p.Gly68Arg) rs61755774
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) rs1242862941
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs) rs1761915143
NM_000322.5(PRPH2):c.271T>C (p.Tyr91His) rs747893076
NM_000322.5(PRPH2):c.276dup (p.Arg93fs) rs1582780842
NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter) rs1761921113
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter) rs61755776
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del) rs61755777
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro) rs2152010976
NM_000322.5(PRPH2):c.377T>G (p.Leu126Arg) rs2152010976
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro) rs1761911206
NM_000322.5(PRPH2):c.389T>G (p.Leu130Arg) rs1761911206
NM_000322.5(PRPH2):c.40_41insGT (p.Val14fs) rs2152011148
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.415_417del (p.Lys139del) rs2152010954
NM_000322.5(PRPH2):c.421T>G (p.Tyr141Asp)
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.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs) rs1554270806
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.469G>C (p.Asp157His) rs61755787
NM_000322.5(PRPH2):c.470A>G (p.Asp157Gly)
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg) rs1761907993
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) rs1582780550
NM_000322.5(PRPH2):c.479A>C (p.Gln160Pro)
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg) rs2152010916
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr) rs61755788
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe) rs61755788
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.4G>T (p.Ala2Ser) rs1424831291
NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)
NM_000322.5(PRPH2):c.502AAC[1] (p.Asn169del) rs61755790
NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys) rs1761906682
NM_000322.5(PRPH2):c.514C>G (p.Arg172Gly) rs61755792
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.515G>C (p.Arg172Pro) rs61755793
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) rs61755794
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly) rs61755794
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val) rs61755794
NM_000322.5(PRPH2):c.520T>A (p.Trp174Arg) rs1395223954
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg) rs61755795
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.536G>T (p.Trp179Leu) rs2152010886
NM_000322.5(PRPH2):c.551A>C (p.Tyr184Ser) rs62645926
NM_000322.5(PRPH2):c.557A>G (p.Asp186Gly) rs2152010856
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.581+5G>A rs2152010844
NM_000322.5(PRPH2):c.582-14T>A rs2152005424
NM_000322.5(PRPH2):c.582-1G>A rs1800118693
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu) rs1331346375
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly) rs1322278463
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter) rs1322278463
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn) rs1131691378
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs) rs1800118385
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg) rs375978676
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.597del (p.Asn199fs) rs1800118044
NM_000322.5(PRPH2):c.599T>A (p.Val200Glu) rs62645932
NM_000322.5(PRPH2):c.599T>C (p.Val200Ala) rs62645932
NM_000322.5(PRPH2):c.603_620del (p.Arg203_Gly208del) rs1800116963
NM_000322.5(PRPH2):c.604G>T (p.Gly202Trp)
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu) rs1800117660
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs) rs1800116472
NM_000322.5(PRPH2):c.618_626del (p.Asp207_Val209del) rs2152005362
NM_000322.5(PRPH2):c.622G>T (p.Gly208Cys) rs901479607
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe) rs753657349
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu) rs1800116126
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs) rs2152005352
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn)
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg) rs1554269071
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) rs61755802
NM_000322.5(PRPH2):c.637T>G (p.Cys213Gly)
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser) rs61755803
NM_000322.5(PRPH2):c.638G>T (p.Cys213Phe) rs61755803
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp) rs1800115811
NM_000322.5(PRPH2):c.640T>C (p.Cys214Arg) rs2152005343
NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr) rs61755804
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter) rs1388865786
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr) rs2152005339
NM_000322.5(PRPH2):c.644A>C (p.Asn215Thr)
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs) rs1800115494
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.655C>G (p.Pro219Ala)
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg) rs61755808
NM_000322.5(PRPH2):c.656_658del (p.Pro219del) rs61755807
NM_000322.5(PRPH2):c.657_662del (p.Arg220_Pro221del) rs2152005313
NM_000322.5(PRPH2):c.658C>G (p.Arg220Gly)
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) rs61755810
NM_000322.5(PRPH2):c.660_665del (p.Pro221_Cys222del) rs2152005308
NM_000322.5(PRPH2):c.661C>G (p.Pro221Ala)
NM_000322.5(PRPH2):c.662C>G (p.Pro221Arg)
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr) rs1442844778
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe) rs1442844778
NM_000322.5(PRPH2):c.668T>A (p.Ile223Asn) rs1800114220
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr) rs1800114220
NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter) rs1800114066
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) rs61755811
NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.694G>A (p.Ala232Thr)
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) rs61755813
NM_000322.5(PRPH2):c.711_722del (p.Asp237_Thr240del) rs2152005268
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000322.5(PRPH2):c.730_736delinsCAGCTCCTCCAGACGGGTGCACCAGAC (p.Asn244fs) rs2152005260
NM_000322.5(PRPH2):c.731A>G (p.Asn244Ser) rs1582764714
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys) rs61755816
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys) rs1800111659
NM_000322.5(PRPH2):c.743del (p.Arg248fs) rs1800111486
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser) rs2152005248
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg) rs1064793931
NM_000322.5(PRPH2):c.748T>G (p.Cys250Gly) rs1064793931
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr) rs1458793437
NM_000322.5(PRPH2):c.749G>C (p.Cys250Ser) rs1458793437
NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe) rs1458793437
NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp) rs2152005234
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln) rs1800110989
NM_000322.5(PRPH2):c.765_769del (p.Ser256fs) rs1800110798
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter) rs1800110757
NM_000322.5(PRPH2):c.793dup (p.Met265fs) rs1800110234
NM_000322.5(PRPH2):c.794T>G (p.Met265Arg) rs1582764600
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs) rs1582764504
NM_000322.5(PRPH2):c.811del (p.Leu271fs) rs1582764528
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG rs2152005182
NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter) rs751900290
NM_000322.5(PRPH2):c.828+2T>C rs1800108496
NM_000322.5(PRPH2):c.828G>T (p.Glu276Asp)
NM_000322.5(PRPH2):c.829-1G>A rs1582759782
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter) rs62645938
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs) rs1554268546
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) rs1799988458
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000322.5(PRPH2):c.910C>T (p.Gln304Ter) rs390659
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.5(PRPH2):c.917G>A (p.Trp306Ter)
NM_000322.5(PRPH2):c.934del (p.Val312fs) rs1799986608
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs) rs1799985749
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492

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