ClinVar Miner

List of variants in gene PRPH2 reported by Blueprint Genetics

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Gene type:
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Total variants: 58
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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.464C>T (p.Thr155Ile) rs199572514 0.00002
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) rs779414078 0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 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.828+3A>T rs281865373 0.00001
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) rs1799984208
NM_000322.5(PRPH2):c.1013_1014insTGGAAGCCGAGGGCGCAGG (p.Ala339fs) rs762023485
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
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.306_320del (p.Ala103_Leu107del) rs1761912845
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.458A>T (p.Lys153Met) rs61755785
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.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly) rs61755794
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu) rs1761905174
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) rs62645929
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.584G>C (p.Arg195Pro) rs121918567
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) rs997283737
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly) rs1800116925
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
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.681C>G (p.Ile227Met) rs1800113865
NM_000322.5(PRPH2):c.698A>G (p.His233Arg) rs1800113326
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.774_775del (p.Tyr258_Ser259delinsTer) rs1800110629
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.828G>A (p.Glu276=) rs1800108549
NM_000322.5(PRPH2):c.863C>T (p.Thr288Met) rs1016933713
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) rs1799988458
NM_000322.5(PRPH2):c.934del (p.Val312fs) rs1799986608
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs) rs1799985749
NM_000322.5(PRPH2):c.994G>A (p.Val332Met) rs1799985104

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