ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.759del (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.821T>C (p.Leu274Pro) rs1594867597

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