ClinVar Miner

List of variants in gene PRPH2 reported by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter) rs1761914145
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.461_464delinsTGGTCT (p.Lys154fs) rs1761908297
NM_000322.5(PRPH2):c.582-1G>C rs1800118693
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.686_689del (p.Asn229fs) rs1800113541
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430

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