ClinVar Miner

List of variants studied for Dent disease type 2 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)	rs137853262
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)	rs137853846
NM_000276.4(OCRL):c.1598T>C (p.Ile533Thr)	rs2124412922
NM_000276.4(OCRL):c.167_168del (p.Ile56fs)	rs2124388022
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)	rs137853263

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