List of variants studied for Bartter disease type 3 by Mendelics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)	rs1889789	0.81589
NM_000085.5(CLCNKB):c.656-31del	rs751608665	0.00046
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter)	rs370221310	0.00006
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.1309G>A (p.Gly437Arg)	rs755714542	0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)	rs377215024	0.00004
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val)	rs1570340095
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter)	rs1570341086
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)	rs953686324
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter)	rs1570334344

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