List of variants in gene SLC12A1 reported as likely pathogenic for Bartter disease type 1

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)	rs34819316	0.00334
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)	rs765347751	0.00003
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)	rs780619649	0.00001
NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu)
NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro)	rs1370120380
NM_000338.3(SLC12A1):c.1684+1G>A
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs)	rs776749406
NM_000338.3(SLC12A1):c.2834_2873+12del	rs1566857461
NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly)
NM_000338.3(SLC12A1):c.975+1G>A

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