ClinVar Miner

List of variants in gene PRPH2 reported as likely pathogenic by Blueprint Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) rs779414078 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) rs61755766 0.00001
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) rs1242862941
NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter) rs1761921113
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg) rs1761907993
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly) rs61755794
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr) rs1442844778
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe) rs1442844778
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) rs61755813
NM_000322.5(PRPH2):c.743del (p.Arg248fs) rs1800111486
NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe) rs1458793437
NM_000322.5(PRPH2):c.765_769del (p.Ser256fs) rs1800110798
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter) rs1800110757
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) rs1799988458
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs) rs1799985749

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