ClinVar Miner

List of variants studied for Nephronophthisis 14 by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met) rs200057861 0.00052
NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val) rs142517429 0.00019
NM_001379286.1(ZNF423):c.1193C>T (p.Pro398Leu) rs112570445 0.00011
NM_001379286.1(ZNF423):c.2738G>A (p.Arg913Gln) rs777432098 0.00004
NM_001379286.1(ZNF423):c.3322G>A (p.Ala1108Thr) rs778755872 0.00001
NM_001379286.1(ZNF423):c.1688C>T (p.Pro563Leu)
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
NM_001379286.1(ZNF423):c.376A>G (p.Met126Val) rs150427822
NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg) rs2151705854

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