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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.1056+1G>A
NM_000276.4(OCRL):c.1245-1083G>A	rs1936192276
NM_000276.4(OCRL):c.1467-1G>A
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu)	rs1936370877
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)	rs1933891368
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His)	rs1569540369
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs)	rs1934037265
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs)	rs1934037561
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn)	rs1934039336
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys)	rs1934041295
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs)	rs1934069016
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs)	rs1933380245
NM_001127898.4(CLCN5):c.933+2T>C	rs2147582103
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg)	rs2147594126

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