ClinVar Miner

List of variants reported as likely pathogenic for PRPH2-Related Disorders

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Total variants: 39
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HGVS dbSNP gnomAD frequency
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.850C>T (p.Arg284Cys) rs370994796 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)
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.469G>C (p.Asp157His) rs61755787
NM_000322.5(PRPH2):c.470A>G (p.Asp157Gly)
NM_000322.5(PRPH2):c.479A>C (p.Gln160Pro)
NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)
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)
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)
NM_000322.5(PRPH2):c.637T>G (p.Cys213Gly)
NM_000322.5(PRPH2):c.640T>C (p.Cys214Arg) rs2152005343
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.658C>G (p.Arg220Gly)
NM_000322.5(PRPH2):c.661C>G (p.Pro221Ala)
NM_000322.5(PRPH2):c.662C>G (p.Pro221Arg)
NM_000322.5(PRPH2):c.694G>A (p.Ala232Thr)
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
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492

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