List of variants in gene KCNJ1 reported as pathogenic for Bartter disease type 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)	rs59172778	0.00742
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter)	rs201707868	0.00006
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	rs200320892	0.00004
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val)	rs104894246	0.00002
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu)	rs104894254	0.00001
KCNJ1, TRP58TER
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter)	rs104894244
NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter)	rs185212943
NM_153766.3(KCNJ1):c.265G>C (p.Asp89His)	rs104894250
NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys)	rs104894251
NM_153766.3(KCNJ1):c.42dup (p.Gly15fs)	rs2135941091
NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro)
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)	rs104894253
NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg)	rs104894245

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