ClinVar Miner

List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as uncertain significance for Retinitis pigmentosa

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.*434A>T rs886050645 0.00029
NM_152443.3(RDH12):c.*557C>T rs553955355 0.00029
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) rs769317754 0.00014
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_152443.3(RDH12):c.*310T>C rs780725917 0.00004
NM_152443.3(RDH12):c.*155C>T rs886050643 0.00002
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) rs777424197 0.00001
NM_152443.3(RDH12):c.*201C>T rs886050644
NM_152443.3(RDH12):c.*230A>C rs1453421086
NM_152443.3(RDH12):c.*27G>A rs886050642
NM_152443.3(RDH12):c.*387T>C rs2038324671
NM_152443.3(RDH12):c.*476C>A rs541626452
NM_152443.3(RDH12):c.697G>T (p.Val233Phe) rs140257538
NM_152443.3(RDH12):c.719A>G (p.His240Arg) rs1594867476
NM_152443.3(RDH12):c.731T>C (p.Leu244Pro) rs781099767

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