ClinVar Miner

List of variants in gene NUP107 studied for Nephrotic syndrome, type 11

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020401.4(NUP107):c.1998+14G>T rs7976871 0.25758
NM_020401.4(NUP107):c.1998+15G>T rs7976876 0.21375
NM_020401.4(NUP107):c.2492A>C (p.Asp831Ala) rs864321632 0.00001
NM_020401.4(NUP107):c.580C>T (p.Arg194Ter) rs774346160 0.00001
NM_020401.4(NUP107):c.1079_1083del (p.Glu360fs) rs864321687
NM_020401.4(NUP107):c.2544_2555del (p.Leu848_Leu852delinsPhe) rs2136056550
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr) rs864321633
NM_020401.4(NUP107):c.72G>A (p.Arg24=) rs2259588
NM_020401.4(NUP107):c.824_826del (p.Ser275del)
NM_020401.4(NUP107):c.969+1G>A rs864321688

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