ClinVar Miner

List of variants in gene BBS12 reported as likely pathogenic for Retinitis pigmentosa

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg) rs1578491064
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669

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