ClinVar Miner

List of variants studied for Galloway-Mowat syndrome 7 by Genome-Nilou Lab

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Total variants: 3
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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.72G>A (p.Arg24=) rs2259588

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