ClinVar Miner

List of variants in gene SLC12A6 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.271+289A>G rs2615351 0.98937
NM_001365088.1(SLC12A6):c.1943+51G>A rs4371122 0.96544
NM_001365088.1(SLC12A6):c.544-129G>A rs2705350 0.88660
NM_001365088.1(SLC12A6):c.544-221_544-218dup rs10640651 0.88628
NM_001365088.1(SLC12A6):c.1118+115A>G rs2705344 0.79993
NM_001365088.1(SLC12A6):c.1118+98C>G rs2615358 0.77817
NM_001365088.1(SLC12A6):c.1333+181A>C rs2244040 0.61777
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.1118+290T>C rs4780236 0.30485
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=) rs7164902 0.22884
NM_001365088.1(SLC12A6):c.-72-214C>T rs73374493 0.16593
NM_001365088.1(SLC12A6):c.3043-75C>T rs17817800 0.16216
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_001365088.1(SLC12A6):c.2436+136G>A rs60604568 0.16149
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.1119-267T>A rs60165224 0.16137
NM_001365088.1(SLC12A6):c.2803-25T>C rs17817806 0.16133
NM_001365088.1(SLC12A6):c.1333+97C>A rs2290942 0.16128
NM_001365088.1(SLC12A6):c.-72-143A>T rs73374491 0.15623
NC_000015.10:g.34338196G>A rs6495661 0.15619
NM_001365088.1(SLC12A6):c.2935-261A>G rs16958875 0.15587
NM_001365088.1(SLC12A6):c.2162+323A>G rs10519916 0.10627
NM_001365088.1(SLC12A6):c.3228-198C>T rs111930900 0.10620
NM_001365088.1(SLC12A6):c.2043-301T>C rs16958878 0.10487
NM_001365088.1(SLC12A6):c.3043-188C>A rs73388027 0.10191
NM_001365088.1(SLC12A6):c.1825-13C>T rs74010036 0.10170
NM_001365088.1(SLC12A6):c.1591+102A>G rs61549125 0.09991
NM_001365088.1(SLC12A6):c.1591+93C>G rs56761496 0.09986
NM_001365088.1(SLC12A6):c.316+204A>G rs11638909 0.09708
NM_001365088.1(SLC12A6):c.1592-50A>G rs17236791 0.09549
NM_001365088.1(SLC12A6):c.2042+85G>A rs59209438 0.09524
NM_001365088.1(SLC12A6):c.1118+282T>G rs76027545 0.08574
NM_001365088.1(SLC12A6):c.316+75T>G rs347825 0.07550
NM_001365088.1(SLC12A6):c.2043-90A>C rs74676364 0.05664
NM_001365088.1(SLC12A6):c.1825-138G>T rs76107221 0.05646
NM_001365088.1(SLC12A6):c.2632+227C>T rs76270282 0.05608
NM_001365088.1(SLC12A6):c.411+135A>G rs78521190 0.04629
NM_001365088.1(SLC12A6):c.271+18034A>T rs28543997 0.04189
NM_001365088.1(SLC12A6):c.271+17261A>C rs114474942 0.03934
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.1649+38T>C rs117589457 0.01953
NM_001365088.1(SLC12A6):c.412-117G>A rs113047532 0.01909
NM_001365088.1(SLC12A6):c.1650-228C>T rs146779495 0.01759
NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=) rs35583475 0.01718
NM_001365088.1(SLC12A6):c.746-45T>A rs17817830 0.01677
NM_001365088.1(SLC12A6):c.411+236A>G rs76407713 0.01626
NM_001365088.1(SLC12A6):c.1944-260G>A rs16958881 0.01438
NM_001365088.1(SLC12A6):c.877-333T>C rs116966240 0.01360
NM_001365088.1(SLC12A6):c.1333+153C>G rs117050982 0.01349
NM_001365088.1(SLC12A6):c.746-252C>G rs148518785 0.01210
NM_001365088.1(SLC12A6):c.411+143A>G rs111302342 0.01207
NM_001365088.1(SLC12A6):c.544-240_544-239dup rs574774649 0.01205
NM_001365088.1(SLC12A6):c.544-97G>A rs56686766 0.01204
NM_001365088.1(SLC12A6):c.-73+135C>A rs147966325 0.01132
NM_001365088.1(SLC12A6):c.271+18050A>G rs80111581 0.01091
NM_001365088.1(SLC12A6):c.2803-39C>T rs74734994 0.01056
NM_001365088.1(SLC12A6):c.-73+250A>G rs141533243 0.00954
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.1333+265C>T rs114678059 0.00740
NM_001365088.1(SLC12A6):c.745+299A>G rs139210833 0.00740
NM_001365088.1(SLC12A6):c.746-227G>A rs77530232 0.00732
NM_001365088.1(SLC12A6):c.1649+104C>T rs76293115 0.00719
NM_001365088.1(SLC12A6):c.2803-210G>A rs80153148 0.00716
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_001365088.1(SLC12A6):c.2268-88C>T rs114137406 0.00639
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.1943+76A>G rs79287941 0.00572
NM_001365088.1(SLC12A6):c.2803-46T>C rs114895928 0.00572
NM_001365088.1(SLC12A6):c.3228-269G>T rs189038527 0.00562
NM_001365088.1(SLC12A6):c.3228-273del rs554651774 0.00560
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.3043-187G>A rs150396793 0.00471
NM_001365088.1(SLC12A6):c.2935-7A>G rs184053916 0.00465
NM_001365088.1(SLC12A6):c.271+17279A>G rs991681845 0.00402
NM_001365088.1(SLC12A6):c.3362-97A>G rs115102582 0.00347
NM_001365088.1(SLC12A6):c.3042+184T>G rs181185888 0.00346
NM_001365088.1(SLC12A6):c.271+17503C>A rs114815919 0.00333
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.2042+205C>T rs192991041 0.00208
NM_001365088.1(SLC12A6):c.528A>G (p.Lys176=) rs150922818 0.00063
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001365088.1(SLC12A6):c.1649+20G>A rs201054191 0.00028
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365088.1(SLC12A6):c.745+9G>C rs369891876 0.00020
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.3043-3C>G rs368682142 0.00008
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001365088.1(SLC12A6):c.1778G>A (p.Arg593Lys) rs779664776 0.00006
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln) rs371696267 0.00006
NM_001365088.1(SLC12A6):c.381A>G (p.Glu127=) rs567323663 0.00006
NM_001365088.1(SLC12A6):c.176C>G (p.Pro59Arg) rs777459849 0.00005
NM_001365088.1(SLC12A6):c.958G>A (p.Val320Ile) rs752427635 0.00004
NM_001365088.1(SLC12A6):c.2003G>A (p.Arg668Gln) rs779359867 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.1215A>G (p.Leu405=) rs763741256 0.00002
NM_001365088.1(SLC12A6):c.*17G>A rs764086996 0.00001
NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu) rs774246639 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.1933A>G (p.Ile645Val) rs572342330 0.00001
NM_001365088.1(SLC12A6):c.2316G>A (p.Lys772=) rs145060136 0.00001
NM_001365088.1(SLC12A6):c.3109G>A (p.Glu1037Lys) rs775973016 0.00001
NM_001365088.1(SLC12A6):c.3402A>G (p.Arg1134=) rs750825269 0.00001
NM_001365088.1(SLC12A6):c.73A>G (p.Ile25Val) rs1370247909 0.00001
NM_001365088.1(SLC12A6):c.745+11C>T rs1286207076 0.00001
NM_001365088.1(SLC12A6):c.97C>G (p.Pro33Ala) rs767685808 0.00001
NM_001365088.1(SLC12A6):c.-17T>G rs940361308
NM_001365088.1(SLC12A6):c.103C>T (p.Leu35Phe) rs1454226326
NM_001365088.1(SLC12A6):c.107G>A (p.Ser36Asn) rs2141212975
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1147TCA[1] (p.Ser384del) rs1892450807
NM_001365088.1(SLC12A6):c.1217_1218delinsTC (p.Trp406Phe)
NM_001365088.1(SLC12A6):c.1322G>A (p.Gly441Asp) rs1192661841
NM_001365088.1(SLC12A6):c.1334-41dup rs11382535
NM_001365088.1(SLC12A6):c.1493-13del rs748657003
NM_001365088.1(SLC12A6):c.1493-18dup rs532293212
NM_001365088.1(SLC12A6):c.1493-72A>G rs141939614
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.157G>C (p.Glu53Gln) rs2141212637
NM_001365088.1(SLC12A6):c.1592-12_1592-11del rs773962735
NM_001365088.1(SLC12A6):c.1650-83dup rs200823199
NM_001365088.1(SLC12A6):c.1939T>C (p.Ser647Pro) rs879253966
NM_001365088.1(SLC12A6):c.199A>G (p.Thr67Ala)
NM_001365088.1(SLC12A6):c.2029C>G (p.Arg677Gly)
NM_001365088.1(SLC12A6):c.2030G>A (p.Arg677His)
NM_001365088.1(SLC12A6):c.2033A>G (p.Tyr678Cys) rs1566806106
NM_001365088.1(SLC12A6):c.2268-11C>T rs1052186991
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2660A>G (p.His887Arg) rs1566801268
NM_001365088.1(SLC12A6):c.271+17261dup rs926815901
NM_001365088.1(SLC12A6):c.271+17279del rs926815901
NM_001365088.1(SLC12A6):c.271+17385C>G rs113986260
NM_001365088.1(SLC12A6):c.271+17647C>G rs347867
NM_001365088.1(SLC12A6):c.2855A>G (p.Asn952Ser) rs879254048
NM_001365088.1(SLC12A6):c.2934+122dup rs35994446
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.3228-277A>G rs111631907
NM_001365088.1(SLC12A6):c.3228-277A>T rs111631907
NM_001365088.1(SLC12A6):c.3228-281G>T rs182432979
NM_001365088.1(SLC12A6):c.3361+297G>T rs73388020
NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val) rs759907642
NM_001365088.1(SLC12A6):c.411+116_411+120del rs139124111
NM_001365088.1(SLC12A6):c.484G>A (p.Gly162Arg)
NM_001365088.1(SLC12A6):c.543+139C>G rs112716447
NM_001365088.1(SLC12A6):c.543+252G>T rs79393761
NM_001365088.1(SLC12A6):c.544-16A>T rs753935218
NM_001365088.1(SLC12A6):c.544-21dup rs56033911
NM_001365088.1(SLC12A6):c.717T>A (p.Ser239Arg)
NM_001365088.1(SLC12A6):c.746-167dup rs11421665
NM_001365088.1(SLC12A6):c.876+8A>G rs1057524323
NM_001365088.1(SLC12A6):c.877-177del rs11345194
NM_001365088.1(SLC12A6):c.877-299G>A rs77231823
NM_133647.2(SLC12A6):c.320_322del rs758672590

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