ClinVar Miner

List of variants studied for Dent disease type 1 by GeneReviews

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_49922616)_(50099235_?)del
NG_007159.3:g.(?_162979)_(164232_?)del
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys) rs273585644
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe) rs273585648
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter) rs797044809
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys) rs273585646
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu) rs151340625
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) rs273585647
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) rs273585649
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) rs273585650
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter) rs797044814
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs) rs797044815
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) rs797044808
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro) rs273585645
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) rs151340630
Single allele

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