ClinVar Miner

List of variants in gene PRPH2 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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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.*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
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
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.-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.*839G>A rs73426405 0.02142
NM_000322.5(PRPH2):c.*1230C>T rs79663042 0.01163
NM_000322.5(PRPH2):c.*1565G>A rs41273818 0.00908
NM_000322.5(PRPH2):c.*1534T>C rs115252154 0.00821
NM_000322.5(PRPH2):c.*989G>A rs142990052 0.00657
NM_000322.5(PRPH2):c.*1313G>A rs115451690 0.00625
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000322.5(PRPH2):c.*509G>A rs56194662 0.00277
NM_000322.5(PRPH2):c.*1524G>C rs183409467 0.00247
NM_000322.5(PRPH2):c.*1687C>T rs139177846 0.00186
NM_000322.5(PRPH2):c.*1372C>A rs56385342 0.00080
NM_000322.5(PRPH2):c.*152G>A rs113384495 0.00073
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.909C>T (p.Ser303=) rs144111167 0.00049
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.*20C>T rs180775924 0.00042
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.*1079G>A rs572613522 0.00010
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000322.5(PRPH2):c.*1121A>C rs187919973 0.00004
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_000322.5(PRPH2):c.*797G>A rs188694434
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855

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