ClinVar Miner

List of variants reported as pathogenic for Nephronophthisis 13 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.1034T>G (p.Val345Gly) rs387906983
NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro) rs2109358597
NM_025132.4(WDR19):c.3068dup (p.Tyr1023Ter) rs786205114
NM_025132.4(WDR19):c.682C>T (p.Gln228Ter) rs587777350

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