ClinVar Miner

List of variants studied for Retinitis pigmentosa by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr) rs370922435 0.00001
NM_000327.4(ROM1):c.629A>G (p.Asp210Gly) rs200287184
NM_000554.6(CRX):c.139A>C (p.Thr47Pro) rs1939392843
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296

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