ClinVar Miner

List of variants in gene GPHN, RDH12, ZFYVE26 studied for Retinal dystrophy

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
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.697G>C (p.Val233Leu) rs140257538 0.00003
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) rs200302290 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
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.715C>T (p.Arg239Trp) rs751589863
NM_152443.3(RDH12):c.715dup (p.Arg239fs) rs760813820
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152443.3(RDH12):c.895A>C (p.Thr299Pro) rs2038316783
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
Single allele

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