ClinVar Miner

List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as uncertain significance for Retinal dystrophy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_152443.3(RDH12):c.749T>C (p.Leu250Pro) rs1318963464 0.00001
NM_152443.3(RDH12):c.794G>C (p.Ser265Thr) rs766633594 0.00001
NM_152443.3(RDH12):c.667G>T (p.Val223Phe) rs370015375
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.895A>C (p.Thr299Pro) rs2038316783
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339

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