ClinVar Miner

List of variants in gene PRPH2 reported by Dept Of Ophthalmology, Nagoya University

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Total variants: 48
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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 0.77333
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59432
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.94A>G (p.Ile32Val) rs61755767 0.00033
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00027
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr) rs760687443 0.00017
NM_000322.5(PRPH2):c.507C>T (p.Asn169=) rs143096101 0.00011
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 0.00003
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00002
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu) rs768400169 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098 0.00001
NM_000322.5(PRPH2):c.508G>A (p.Gly170Ser) rs61755791 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00001
NM_000322.5(PRPH2):c.1A>G (p.Met1Val) rs1761921867
NM_000322.5(PRPH2):c.409G>C (p.Gly137Arg) rs781256236
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
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.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.621C>G (p.Asp207Glu) rs1265234802
NM_000322.5(PRPH2):c.623_625dup (p.Gly208dup) rs2152005366
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
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.644A>C (p.Asn215Thr) rs2548300805
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser) rs749603273
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.690C>G (p.Asn230Lys) rs1800113439
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) rs61755813
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.748T>G (p.Cys250Gly) rs1064793931
NM_000322.5(PRPH2):c.778A>T (p.Ser260Cys) rs2548300683
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.828G>T (p.Glu276Asp) rs1800108549
NM_000322.5(PRPH2):c.82G>A (p.Val28Met) rs1476970688
NM_000322.5(PRPH2):c.930G>A (p.Arg310=) rs1322933079

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