ClinVar Miner

List of variants studied for Nephronophthisis 15 by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=) rs522885 0.96045
NM_014956.5(CEP164):c.1482T>C (p.Pro494=) rs897836 0.93246
NM_014956.5(CEP164):c.766-36T>A rs2305826 0.54836
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg) rs573455 0.47249
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser) rs2305830 0.28431
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn) rs490262 0.21761
NM_014956.5(CEP164):c.1935-5C>G rs897837 0.12409
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334 0.02549

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