ClinVar Miner

List of variants studied for Dent disease type 1 by Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria

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Total variants: 8
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NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His) rs1569540369
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs)
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs)
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn)
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys)
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs)
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs)

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