ClinVar Miner

List of variants reported as likely pathogenic for Nephronophthisis by Yale Center for Mendelian Genomics, Yale University

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His) rs61893682 0.00255
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg) rs192420947 0.00021
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu) rs774456004 0.00003
NM_032130.3(FAM186B):c.506-2A>G rs549662742 0.00002
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala) rs372607453 0.00001
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs) rs2106648140

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