ClinVar Miner

List of variants in gene SLC12A6 studied for not specified

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Gene type:
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Total variants: 49
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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.1492+45C>T rs10851964 0.60740
NM_001365088.1(SLC12A6):c.271+41G>C rs347836 0.46169
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.2803-25T>C rs17817806 0.16133
NM_001365088.1(SLC12A6):c.1825-13C>T rs74010036 0.10170
NM_001365088.1(SLC12A6):c.1944-26C>T rs34807905 0.03484
NM_001365088.1(SLC12A6):c.2042+32C>A rs79436830 0.02352
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
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.271+17825C>T rs150751809 0.00276
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.528A>G (p.Lys176=) rs150922818 0.00063
NM_001365088.1(SLC12A6):c.745+9G>C rs369891876 0.00020
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp) rs370477960 0.00019
NM_001365088.1(SLC12A6):c.1944-19C>T rs199691611 0.00018
NM_001365088.1(SLC12A6):c.543+8C>G rs372959539 0.00015
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001365088.1(SLC12A6):c.3061C>A (p.Arg1021=) rs752558011 0.00010
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001365088.1(SLC12A6):c.3427A>G (p.Ser1143Gly) rs1322848611 0.00002
NM_001365088.1(SLC12A6):c.1118+4C>T rs773294017 0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.186G>A (p.Glu62=) rs530537247 0.00001
NM_001365088.1(SLC12A6):c.745+11C>T rs1286207076 0.00001
NM_001365088.1(SLC12A6):c.-17T>G rs940361308
NM_001365088.1(SLC12A6):c.1118+5G>A
NM_001365088.1(SLC12A6):c.1493-13del rs748657003
NM_001365088.1(SLC12A6):c.1493-18dup rs532293212
NM_001365088.1(SLC12A6):c.1592-12_1592-11del rs773962735
NM_001365088.1(SLC12A6):c.1A>G (p.Met1Val) rs1295560007
NM_001365088.1(SLC12A6):c.2110A>G (p.Ile704Val) rs748542923
NM_001365088.1(SLC12A6):c.2268-11C>T rs1052186991
NM_001365088.1(SLC12A6):c.2T>C (p.Met1Thr)
NM_001365088.1(SLC12A6):c.3043-8_3043-7insTGA rs1064795364
NM_001365088.1(SLC12A6):c.316+14G>A rs1555384157
NM_001365088.1(SLC12A6):c.316+8A>T rs1057523886
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365088.1(SLC12A6):c.544-16A>T rs753935218
NM_001365088.1(SLC12A6):c.876+8A>G rs1057524323

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