List of variants in gene SLC12A3 reported as pathogenic for Inborn genetic diseases

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	rs202114767	0.00008
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)	rs374324018	0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)	rs758035631	0.00004
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs)	rs754378340
NM_001126108.2(SLC12A3):c.852+1G>A	rs2055084531

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