ClinVar Miner

List of variants in gene PRPH2 reported by Retina International

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Total variants: 86
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HGVS dbSNP gnomAD frequency
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.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
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.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 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.554T>C (p.Leu185Pro) rs121918563 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.*851_*854del rs281865376
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.198_202delinsAAGACAGA (p.Met67_Gly68delinsArgGlnArg) rs63749073
NM_000322.5(PRPH2):c.199_201del (p.Met67del) rs61755773
NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg) rs61755774
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.303C>T (p.Tyr101=) rs61755776
NM_000322.5(PRPH2):c.353GCT[1] (p.Cys119del) rs61755777
NM_000322.5(PRPH2):c.371del (p.Gly124fs) rs61755778
NM_000322.5(PRPH2):c.376C>G (p.Leu126Val) rs61755779
NM_000322.5(PRPH2):c.37C>A (p.Arg13=) rs61754402
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.423_424insTACT (p.Arg142fs) rs61755782
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
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.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr) rs61755788
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp) rs61755789
NM_000322.5(PRPH2):c.502AAC[1] (p.Asn169del) rs61755790
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.518A>T (p.Asp173Val) rs61755794
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.551A>C (p.Tyr184Ser) rs62645926
NM_000322.5(PRPH2):c.577_579del (p.Lys193del) rs62645928
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) rs62645929
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.599T>A (p.Val200Glu) rs62645932
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs) rs281865372
NM_000322.5(PRPH2):c.616_627del (p.Val206_Val209del) rs62645934
NM_000322.5(PRPH2):c.623dup (p.Val209fs) rs62641253
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.633C>A (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) rs61755802
NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr) rs61755804
NM_000322.5(PRPH2):c.641G>C (p.Cys214Ser) rs61755804
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
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.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.676C>G (p.Gln226Glu) rs61755811
NM_000322.5(PRPH2):c.700dup (p.Tyr234fs) rs61755812
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
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.732C>G (p.Asn244Lys) rs61755816
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000322.5(PRPH2):c.73_74del (p.Trp25fs) rs61755765
NM_000322.5(PRPH2):c.773A>C (p.Tyr258Ser) rs61755818
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.824_825del (p.Leu274_Phe275insTer) rs62645937
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter) rs62645938
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs) rs61748429
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.5(PRPH2):c.914_922del (p.Gly305_Leu308delinsVal) rs281865374
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter) rs121918566
NM_000322.5(PRPH2):c.96dup (p.Ile33fs) rs61755768
NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter) rs281865375

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