ClinVar Miner

List of variants in gene PRPH2 reported as likely pathogenic for PRPH2-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys) rs1761910060 0.00001
NM_000322.5(PRPH2):c.622G>A (p.Gly208Ser) rs901479607 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile) rs369507460 0.00001
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) rs61755766 0.00001
NM_000322.5(PRPH2):c.850C>T (p.Arg284Cys) rs370994796 0.00001
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492 0.00001
NC_000006.11:g.(?_42672083)_(42672369_?)dup
NM_000322.5(PRPH2):c.1A>G (p.Met1Val) rs1761921867
NM_000322.5(PRPH2):c.389T>G (p.Leu130Arg) rs1761911206
NM_000322.5(PRPH2):c.421T>G (p.Tyr141Asp) rs61755780
NM_000322.5(PRPH2):c.469G>C (p.Asp157His) rs61755787
NM_000322.5(PRPH2):c.470A>G (p.Asp157Gly) rs2548309652
NM_000322.5(PRPH2):c.479A>C (p.Gln160Pro) rs2548309643
NM_000322.5(PRPH2):c.500G>T (p.Gly167Val) rs61755789
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg) rs61755795
NM_000322.5(PRPH2):c.557A>G (p.Asp186Gly) rs2152010856
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.599T>C (p.Val200Ala) rs62645932
NM_000322.5(PRPH2):c.604G>T (p.Gly202Trp) rs752610846
NM_000322.5(PRPH2):c.622G>T (p.Gly208Cys) rs901479607
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn) rs61755801
NM_000322.5(PRPH2):c.637T>G (p.Cys213Gly) rs61755802
NM_000322.5(PRPH2):c.640T>C (p.Cys214Arg) rs2152005343
NM_000322.5(PRPH2):c.640T>G (p.Cys214Gly)
NM_000322.5(PRPH2):c.658C>G (p.Arg220Gly) rs61755809
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.661C>G (p.Pro221Ala) rs777534414
NM_000322.5(PRPH2):c.662C>G (p.Pro221Arg) rs973931180
NM_000322.5(PRPH2):c.694G>A (p.Ala232Thr) rs2548300768
NM_000322.5(PRPH2):c.731A>G (p.Asn244Ser) rs1582764714
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000322.5(PRPH2):c.749G>C (p.Cys250Ser) rs1458793437
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.910C>T (p.Gln304Ter) rs390659
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489

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.