ClinVar Miner

List of variants in gene NUP107 studied for Galloway-Mowat syndrome 7

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Total variants: 6
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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.1063C>T (p.Arg355Cys)
NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr) rs745342141
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020401.4(NUP107):c.72G>A (p.Arg24=) rs2259588

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