ClinVar Miner

List of variants studied for RDH12-related recessive retinopathy by 3billion

Included ClinVar conditions (2):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.194G>A (p.Arg65Gln) rs745471670 0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 0.00003
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly) rs761167763

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