ClinVar Miner

List of variants in gene PRPH2 reported as not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_000322.4(PRPH2):c.*850_*853del rs281865376
NM_000322.4(PRPH2):c.113delG (p.Gly38Aspfs) rs61755769
NM_000322.4(PRPH2):c.133C>T (p.Leu45Phe) rs61755770
NM_000322.4(PRPH2):c.136C>T (p.Arg46Ter) rs61755771
NM_000322.4(PRPH2):c.198_202delGATGGinsAAGACAGA (p.Met67_Gly68delinsArgGlnArg) rs63749073
NM_000322.4(PRPH2):c.199_201delATG (p.Met67del) rs61755773
NM_000322.4(PRPH2):c.202G>A (p.Gly68Arg) rs61755774
NM_000322.4(PRPH2):c.249C>T (p.Tyr83=) rs61755775
NM_000322.4(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.4(PRPH2):c.303C>T (p.Tyr101=) rs61755776
NM_000322.4(PRPH2):c.356_358delGCT (p.Cys119del) rs61755777
NM_000322.4(PRPH2):c.371delG (p.Gly124Alafs) rs61755778
NM_000322.4(PRPH2):c.376C>G (p.Leu126Val) rs61755779
NM_000322.4(PRPH2):c.37C>A (p.Arg13=) rs61754402
NM_000322.4(PRPH2):c.37C>T (p.Arg13Trp) rs61754402
NM_000322.4(PRPH2):c.421T>C (p.Tyr141His) rs61755780
NM_000322.4(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.4(PRPH2):c.423_424insTACT (p.Arg142Tyrfs) rs61755782
NM_000322.4(PRPH2):c.424C>T (p.Arg142Trp) rs61755783
NM_000322.4(PRPH2):c.441delT (p.Gly148Alafs) rs61755784
NM_000322.4(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.4(PRPH2):c.461_463del (p.Lys154del) rs61755786
NM_000322.4(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.4(PRPH2):c.494G>A (p.Cys165Tyr) rs61755788
NM_000322.4(PRPH2):c.500G>A (p.Gly167Asp) rs61755789
NM_000322.4(PRPH2):c.505_507delAAC (p.Asn169del) rs61755790
NM_000322.4(PRPH2):c.508G>A (p.Gly170Ser) rs61755791
NM_000322.4(PRPH2):c.514C>G (p.Arg172Gly) rs61755792
NM_000322.4(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.4(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.4(PRPH2):c.518A>T (p.Asp173Val) rs61755794
NM_000322.4(PRPH2):c.533A>G (p.Gln178Arg) rs61755795
NM_000322.4(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.4(PRPH2):c.551A>C (p.Tyr184Ser) rs62645926
NM_000322.4(PRPH2):c.554T>C (p.Leu185Pro) rs121918563
NM_000322.4(PRPH2):c.577_579delAAA (p.Lys193del) rs62645928
NM_000322.4(PRPH2):c.578_579delAA (p.Lys193Argfs) rs62645929
NM_000322.4(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.4(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.4(PRPH2):c.599T>A (p.Val200Glu) rs62645932
NM_000322.4(PRPH2):c.609_625del17 (p.Tyr204Profs) rs281865372
NM_000322.4(PRPH2):c.616_627delGTGGACGGCGTC (p.Val206_Val209del) rs62645934
NM_000322.4(PRPH2):c.623_624insG (p.Val209Argfs) rs62641253
NM_000322.4(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.4(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.4(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.4(PRPH2):c.633C>A (p.Phe211Leu) rs61755799
NM_000322.4(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.4(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.4(PRPH2):c.637T>C (p.Cys213Arg) rs61755802
NM_000322.4(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803
NM_000322.4(PRPH2):c.641G>A (p.Cys214Tyr) rs61755804
NM_000322.4(PRPH2):c.641G>C (p.Cys214Ser) rs61755804
NM_000322.4(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.4(PRPH2):c.647C>T (p.Pro216Leu) rs61755806
NM_000322.4(PRPH2):c.656C>G (p.Pro219Arg) rs61755808
NM_000322.4(PRPH2):c.656_658delCAC (p.Pro219del) rs61755807
NM_000322.4(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.4(PRPH2):c.659G>A (p.Arg220Gln) rs61755810
NM_000322.4(PRPH2):c.676C>G (p.Gln226Glu) rs61755811
NM_000322.4(PRPH2):c.700_701insT (p.Tyr234Leufs) rs61755812
NM_000322.4(PRPH2):c.708C>T (p.Tyr236=) rs61755813
NM_000322.4(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.4(PRPH2):c.730A>C (p.Asn244His) rs61755815
NM_000322.4(PRPH2):c.732C>A (p.Asn244Lys) rs61755816
NM_000322.4(PRPH2):c.732C>G (p.Asn244Lys) rs61755816
NM_000322.4(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000322.4(PRPH2):c.73_74delTG (p.Trp25Valfs) rs61755765
NM_000322.4(PRPH2):c.773A>C (p.Tyr258Ser) rs61755818
NM_000322.4(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.4(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.4(PRPH2):c.80C>T (p.Ser27Phe) rs61755766
NM_000322.4(PRPH2):c.824_825delTC (p.Phe275Terfs) rs62645937
NM_000322.4(PRPH2):c.828+3A>T rs281865373
NM_000322.4(PRPH2):c.855C>A (p.Tyr285Ter) rs62645938
NM_000322.4(PRPH2):c.866C>T (p.Ser289Leu) rs62645939
NM_000322.4(PRPH2):c.897_898delTG (p.Ser301Argfs) rs61748429
NM_000322.4(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000322.4(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.4(PRPH2):c.914_922delGCTGGCTGC (p.Gly305_Leu308delinsVal) rs281865374
NM_000322.4(PRPH2):c.920delT (p.Leu307Argfs) rs61748433
NM_000322.4(PRPH2):c.933C>T (p.Ser311=) rs137853904
NM_000322.4(PRPH2):c.938C>T (p.Pro313Leu) rs61748434
NM_000322.4(PRPH2):c.947G>A (p.Trp316Ter) rs121918566
NM_000322.4(PRPH2):c.94A>G (p.Ile32Val) rs61755767
NM_000322.4(PRPH2):c.96_97insC (p.Ile33Hisfs) rs61755768
NM_000322.4(PRPH2):c.991C>T (p.Gln331Ter) rs281865375
NM_000322.5(PRPH2):c.-11A>C rs114062933

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.