List of variants reported as pathogenic for Bartter disease type 4B

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)	rs121909136	0.00009
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met)	rs202064075	0.00008
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	rs121909132	0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)	rs201781905	0.00006
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp)	rs777305169	0.00004
NM_000085.5(CLCNKB):c.782-2A>G	rs779908241	0.00002
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs)	rs775637637	0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)	rs370985865	0.00001
NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter)	rs121909138	0.00001
GRCh37/hg19 1p36.13(chr1:16370960-16383841)
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs)	rs767271426
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer)	rs863224858
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)	rs953686324
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys)	rs121909137

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