ClinVar Miner

List of variants studied for Nephronophthisis 14 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val) rs142517429 0.00019
NM_001379286.1(ZNF423):c.40+33082T>A rs556089941 0.00004
NM_001379286.1(ZNF423):c.785C>T (p.Ser262Leu) rs773775408 0.00004
NM_001379286.1(ZNF423):c.1162C>T (p.Arg388Cys) rs985841675 0.00001
NM_001379286.1(ZNF423):c.3364G>A (p.Asp1122Asn) rs771960577 0.00001
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576

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