ClinVar Miner

List of variants in gene IFT172 studied for Retinitis pigmentosa 71

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.2116-31T>C rs780107 0.47348
NM_015662.3(IFT172):c.1829+12G>A rs1647276 0.47329
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) rs1668091920
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2877+48T>G rs780106
NM_015662.3(IFT172):c.3112-5T>A rs786205858
NM_015662.3(IFT172):c.770T>C (p.Leu257Pro) rs786205857
NM_015662.3(IFT172):c.786-2A>T

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