ClinVar Miner

List of variants in gene PRPH2 studied for Retinal dystrophy

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Total variants: 176
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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.318T>C (p.Val106=) rs7764439 0.59853
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_000322.5(PRPH2):c.909C>T (p.Ser303=) rs144111167 0.00049
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
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.1015G>A (p.Ala339Thr) rs760687443 0.00018
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.507C>T (p.Asn169=) rs143096101 0.00013
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00006
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 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.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu) rs768400169 0.00001
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 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.508G>A (p.Gly170Ser) rs61755791 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.634A>C (p.Ser212Arg) rs61755800 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.659G>A (p.Arg220Gln) rs61755810 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.*31_*43del
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) rs1799984208
NM_000322.5(PRPH2):c.1013_1014insTGGAAGCCGAGGGCGCAGG (p.Ala339fs) rs762023485
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.133del (p.Leu45fs)
NM_000322.5(PRPH2):c.195del (p.Ile65fs)
NM_000322.5(PRPH2):c.1A>G (p.Met1Val) rs1761921867
NM_000322.5(PRPH2):c.213del (p.Cys72fs)
NM_000322.5(PRPH2):c.230T>A (p.Leu77Gln)
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.259_266del (p.Asp87fs) rs1554270834
NM_000322.5(PRPH2):c.281G>A (p.Trp94Ter) rs2152011008
NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter) rs1761921113
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.306_320del (p.Ala103_Leu107del) rs1761912845
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.359_362del (p.Phe120fs)
NM_000322.5(PRPH2):c.371del (p.Gly124fs) rs61755778
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000322.5(PRPH2):c.409G>C (p.Gly137Arg)
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His) rs61755780
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter) rs2152010946
NM_000322.5(PRPH2):c.433G>A (p.Asp145Asn)
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.442G>T (p.Gly148Cys)
NM_000322.5(PRPH2):c.457A>C (p.Lys153Gln)
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.458A>T (p.Lys153Met) rs61755785
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.466A>G (p.Ile156Val)
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.469G>T (p.Asp157Tyr)
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>G (p.Gln160Arg)
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.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.514del (p.Arg172fs)
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly) rs61755794
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.527A>T (p.Glu176Val) rs1761906163
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.545dup (p.Asn182fs) rs2152010877
NM_000322.5(PRPH2):c.551A>C (p.Tyr184Ser) rs62645926
NM_000322.5(PRPH2):c.557A>T (p.Asp186Val) rs2152010856
NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu) rs1761905174
NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter) rs2152010848
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) rs62645929
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.582-1G>A rs1800118693
NM_000322.5(PRPH2):c.582-2A>T rs2152005417
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>C (p.Arg195Pro) rs121918567
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.593G>C (p.Ser198Thr) rs1800118213
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) rs997283737
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.617T>C (p.Val206Ala) rs1064797323
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly) rs1800116925
NM_000322.5(PRPH2):c.621C>G (p.Asp207Glu)
NM_000322.5(PRPH2):c.623_625dup (p.Gly208dup) rs2152005366
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp) rs1220783333
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.62G>A (p.Trp21Ter) rs2152011135
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs) rs2152005352
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.644A>C (p.Asn215Thr)
NM_000322.5(PRPH2):c.645del (p.Pro216fs)
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.655C>T (p.Pro219Ser)
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg) rs61755808
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.662C>T (p.Pro221Leu) rs973931180
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.676C>T (p.Gln226Ter) rs61755811
NM_000322.5(PRPH2):c.681C>G (p.Ile227Met) rs1800113865
NM_000322.5(PRPH2):c.690C>G (p.Asn230Lys) rs1800113439
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val) rs1800113364
NM_000322.5(PRPH2):c.698A>G (p.His233Arg) rs1800113326
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) rs61755813
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.719C>A (p.Thr240Lys)
NM_000322.5(PRPH2):c.721G>C (p.Glu241Gln)
NM_000322.5(PRPH2):c.730A>C (p.Asn244His) rs61755815
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys) rs61755816
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) 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>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>T (p.Cys250Phe) rs1458793437
NM_000322.5(PRPH2):c.74_77del (p.Trp25fs) rs2152011125
NM_000322.5(PRPH2):c.760del (p.Leu254fs) rs1800111025
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.774_775del (p.Tyr258_Ser259delinsTer) rs1800110629
NM_000322.5(PRPH2):c.778A>T (p.Ser260Cys)
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.806C>G (p.Thr269Arg) rs781212034
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro) rs2152005198
NM_000322.5(PRPH2):c.828G>A (p.Glu276=) rs1800108549
NM_000322.5(PRPH2):c.828G>T (p.Glu276Asp)
NM_000322.5(PRPH2):c.829-3_829-1del rs2152003876
NM_000322.5(PRPH2):c.82G>A (p.Val28Met)
NM_000322.5(PRPH2):c.851G>A (p.Arg284His)
NM_000322.5(PRPH2):c.863C>T (p.Thr288Met) rs1016933713
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs) rs61748429
NM_000322.5(PRPH2):c.898G>T (p.Glu300Ter)
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.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.930G>A (p.Arg310=)
NM_000322.5(PRPH2):c.934del (p.Val312fs) rs1799986608
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs) rs1799985749
NM_000322.5(PRPH2):c.994G>A (p.Val332Met) rs1799985104
NM_000322.5:c.(581+1_582-1)_(828+1_829-1)del

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