List of variants studied for Dent disease type 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter)	rs1933873534
NM_001127898.4(CLCN5):c.1150T>C (p.Trp384Arg)	rs2519433618
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)	rs797044810
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)	rs1933898062
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter)	rs1933903437
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)	rs2519435022
NM_001127898.4(CLCN5):c.1474G>A (p.Val492Met)	rs368039993
NM_001127898.4(CLCN5):c.1A>G (p.Met1Val)	rs2519188777
NM_001127898.4(CLCN5):c.2061C>A (p.Tyr687Ter)	rs2519445562
NM_001127898.4(CLCN5):c.2360+1G>A	rs2519447431
NM_001127898.4(CLCN5):c.902A>T (p.Lys301Ile)	rs782733541

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