ClinVar Miner

Variants in gene PRPH2 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln) rs762660751 0.00006
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly) rs202230698 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile) rs199572514 0.00002
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) rs1799984208
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu) rs1331346375
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly) rs1322278463
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp) rs2152005234
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492

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