ClinVar Miner

List of variants in gene SLC12A6 reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 35
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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.1333+20G>T rs2290941 0.16150
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.408T>C (p.Phe136=) rs145186782 0.00836
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=) rs34098566 0.00816
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_001365088.1(SLC12A6):c.1269C>T (p.Tyr423=) rs114911287 0.00588
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.2935-7A>G rs184053916 0.00465
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.3120C>T (p.Thr1040=) rs571120129 0.00105
NM_001365088.1(SLC12A6):c.1752A>C (p.Gly584=) rs186888172 0.00067
NM_001365088.1(SLC12A6):c.528A>G (p.Lys176=) rs150922818 0.00063
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn) rs781088641 0.00011
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.1493-13del rs748657003
NM_001365088.1(SLC12A6):c.1493-13dup
NM_001365088.1(SLC12A6):c.1493-18del
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.2043-17dup
NM_001365088.1(SLC12A6):c.2163-14del rs771321354
NM_001365088.1(SLC12A6):c.316+19G>T
NM_001365088.1(SLC12A6):c.317-14dup rs747243268
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365088.1(SLC12A6):c.317-6_317-5del rs747243268
NM_001365088.1(SLC12A6):c.3362-5del
NM_001365088.1(SLC12A6):c.411+10del rs377536268
NM_001365088.1(SLC12A6):c.877-10dup rs1892621250

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