ClinVar Miner

List of variants studied for Nephronophthisis 12 by Precision Medicine Center, Zhengzhou University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp)	rs749330118	0.00003
NM_024753.5(TTC21B):c.1552T>C (p.Cys518Arg)	rs1378821369	0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His)	rs773555238	0.00001
NM_024753.5(TTC21B):c.497del (p.Lys166fs)	rs2105363277

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