ClinVar Miner

List of variants in gene PRPH2 reported as likely benign

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Total variants: 129
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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.582-67T>A rs3818086 0.56178
NM_000322.5(PRPH2):c.582-85G>A rs34722725 0.25301
NM_000322.5(PRPH2):c.829-48C>T rs41273820 0.22114
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.866C>T (p.Ser289Leu) rs62645939 0.00079
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.264A>C (p.Pro88=) rs1294407459 0.00034
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00026
NM_000322.5(PRPH2):c.594C>T (p.Ser198=) rs375978676 0.00022
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.252C>T (p.Asp84=) rs139936445 0.00017
NM_000322.5(PRPH2):c.1002C>T (p.Ala334=) rs142381301 0.00015
NM_000322.5(PRPH2):c.828+20G>A rs765805559 0.00014
NM_000322.5(PRPH2):c.507C>T (p.Asn169=) rs143096101 0.00013
NM_000322.5(PRPH2):c.300G>A (p.Pro100=) rs150695654 0.00011
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe) rs150381599 0.00011
NM_000322.5(PRPH2):c.*1079G>A rs572613522 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.888C>T (p.Pro296=) rs183714869 0.00005
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.408C>T (p.Asn136=) rs148513859 0.00004
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly) rs543703718 0.00003
NM_000322.5(PRPH2):c.498C>T (p.Cys166=) rs759752477 0.00003
NM_000322.5(PRPH2):c.375G>A (p.Ser125=) rs777764923 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.684C>T (p.Thr228=) rs375272298 0.00002
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082 0.00002
NM_000322.5(PRPH2):c.828+19G>C rs753117002 0.00002
NM_000322.5(PRPH2):c.846G>A (p.Gly282=) rs375325973 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_000322.5(PRPH2):c.186C>T (p.Asn62=) rs755239769 0.00001
NM_000322.5(PRPH2):c.204G>A (p.Gly68=) rs780175779 0.00001
NM_000322.5(PRPH2):c.205G>T (p.Val69Leu) rs558060514 0.00001
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu) rs768400169 0.00001
NM_000322.5(PRPH2):c.324C>T (p.Phe108=) rs950303632 0.00001
NM_000322.5(PRPH2):c.468C>T (p.Ile156=) rs761275918 0.00001
NM_000322.5(PRPH2):c.582-14dup rs751001788 0.00001
NM_000322.5(PRPH2):c.582-20G>C rs75063935 0.00001
NM_000322.5(PRPH2):c.597C>T (p.Asn199=) rs1419638211 0.00001
NM_000322.5(PRPH2):c.603T>C (p.Asp201=) rs1039760665 0.00001
NM_000322.5(PRPH2):c.621C>T (p.Asp207=) rs1265234802 0.00001
NM_000322.5(PRPH2):c.630T>A (p.Pro210=) rs760803268 0.00001
NM_000322.5(PRPH2):c.663C>T (p.Pro221=) rs747689734 0.00001
NM_000322.5(PRPH2):c.798T>G (p.Gly266=) rs749201548 0.00001
NM_000322.5(PRPH2):c.81C>T (p.Ser27=) rs1170303882 0.00001
NM_000322.5(PRPH2):c.852C>A (p.Arg284=) rs745807357 0.00001
NM_000322.5(PRPH2):c.879G>A (p.Val293=) rs758660018 0.00001
NM_000322.5(PRPH2):c.945C>G (p.Thr315=) rs936676026 0.00001
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000322.5(PRPH2):c.*484dup rs55851577
NM_000322.5(PRPH2):c.*797G>A rs188694434
NM_000322.5(PRPH2):c.1013_1014inv (p.Asp338Gly)
NM_000322.5(PRPH2):c.1014C>T (p.Asp338=)
NM_000322.5(PRPH2):c.115C>T (p.Leu39=)
NM_000322.5(PRPH2):c.12G>A (p.Leu4=) rs2152011167
NM_000322.5(PRPH2):c.216T>C (p.Cys72=)
NM_000322.5(PRPH2):c.228G>A (p.Ser76=)
NM_000322.5(PRPH2):c.336C>T (p.Leu112=)
NM_000322.5(PRPH2):c.387C>T (p.Thr129=) rs1582780697
NM_000322.5(PRPH2):c.399G>T (p.Gly133=)
NM_000322.5(PRPH2):c.411C>T (p.Gly137=) rs2152010958
NM_000322.5(PRPH2):c.435C>T (p.Asp145=)
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855
NM_000322.5(PRPH2):c.48G>A (p.Leu16=) rs1761920239
NM_000322.5(PRPH2):c.54A>G (p.Gln18=)
NM_000322.5(PRPH2):c.553C>T (p.Leu185=) rs2152010868
NM_000322.5(PRPH2):c.564C>T (p.Ser188=) rs1398721260
NM_000322.5(PRPH2):c.576C>T (p.Val192=) rs1179674834
NM_000322.5(PRPH2):c.581+16T>C
NM_000322.5(PRPH2):c.581+7G>C rs1271192942
NM_000322.5(PRPH2):c.582-58A>C rs3818087
NM_000322.5(PRPH2):c.582-7dup
NM_000322.5(PRPH2):c.591G>A (p.Lys197=) rs1313800059
NM_000322.5(PRPH2):c.607C>A (p.Arg203=) rs1800117573
NM_000322.5(PRPH2):c.612C>T (p.Tyr204=)
NM_000322.5(PRPH2):c.613C>T (p.Leu205=)
NM_000322.5(PRPH2):c.624C>T (p.Gly208=)
NM_000322.5(PRPH2):c.651C>T (p.Ser217=)
NM_000322.5(PRPH2):c.654G>A (p.Ser218=)
NM_000322.5(PRPH2):c.654G>T (p.Ser218=) rs373015247
NM_000322.5(PRPH2):c.657A>G (p.Pro219=)
NM_000322.5(PRPH2):c.657A>T (p.Pro219=) rs951349581
NM_000322.5(PRPH2):c.660G>A (p.Arg220=)
NM_000322.5(PRPH2):c.6G>T (p.Ala2=)
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000322.5(PRPH2):c.765G>A (p.Leu255=) rs2152005227
NM_000322.5(PRPH2):c.807G>A (p.Thr269=)
NM_000322.5(PRPH2):c.810C>A (p.Leu270=) rs892751055
NM_000322.5(PRPH2):c.813C>T (p.Leu271=) rs367862962
NM_000322.5(PRPH2):c.816T>C (p.Ile272=)
NM_000322.5(PRPH2):c.828+10G>A
NM_000322.5(PRPH2):c.828+12G>A
NM_000322.5(PRPH2):c.828+15A>C rs1472086318
NM_000322.5(PRPH2):c.828+19G>T rs753117002
NM_000322.5(PRPH2):c.828+20G>C
NM_000322.5(PRPH2):c.829-18C>T
NM_000322.5(PRPH2):c.829-6C>T rs1799990208
NM_000322.5(PRPH2):c.864G>A (p.Thr288=)
NM_000322.5(PRPH2):c.882C>T (p.Ser294=)
NM_000322.5(PRPH2):c.903C>T (p.Ser301=) rs754337687
NM_000322.5(PRPH2):c.924G>C (p.Leu308=) rs775059514
NM_000322.5(PRPH2):c.933C>T (p.Ser311=) rs137853904
NM_000322.5(PRPH2):c.939G>A (p.Pro313=) rs1052492384
NM_000322.5(PRPH2):c.939G>T (p.Pro313=) rs1052492384
NM_000322.5(PRPH2):c.963G>A (p.Glu321=)
NM_000322.5(PRPH2):c.978G>A (p.Leu326=)
NM_000322.5(PRPH2):c.993G>A (p.Gln331=)

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