ClinVar Miner

List of variants studied for Nephronophthisis 14 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001379286.1(ZNF423):c.1216C>T (p.Arg406Trp)	rs368847069	0.00013
NM_001379286.1(ZNF423):c.848C>T (p.Thr283Met)	rs553506281	0.00004
NM_001379286.1(ZNF423):c.296C>T (p.Pro99Leu)	rs553868296	0.00002

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