ClinVar Miner

List of variants in gene combination IFT172, KRTCAP3 reported as benign for Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr) rs61742074 0.00712
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile) rs149117098 0.00046
NM_015662.3(IFT172):c.4815+9G>A rs199667794 0.00019
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp) rs139348179 0.00005

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