ClinVar Miner

List of variants in gene SLC12A6 reported as benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=) rs4577050 0.60784
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=) rs7164902 0.22884
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=) rs17236798 0.16144
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=) rs2290940 0.16143
NM_001365088.1(SLC12A6):c.1825-13C>T rs74010036 0.10170
NM_001365088.1(SLC12A6):c.2934+12G>C rs11854257 0.02091
NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=) rs35583475 0.01718
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=) rs34098566 0.00816

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