ClinVar Miner

List of variants studied for Nephronophthisis 14 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_001379286.1(ZNF423):c.3300C>T (p.Cys1100=) rs147816446 0.00073

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