ClinVar Miner

List of variants studied for agenesis of the corpus callosum with peripheral neuropathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 381
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.*3097G>C rs4238571 0.96869
NM_001365088.1(SLC12A6):c.1943+51G>A rs4371122 0.96544
NM_001365088.1(SLC12A6):c.*1492T>C rs6495640 0.95051
NM_001365088.1(SLC12A6):c.*1047A>G rs4780233 0.61133
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.*3403G>A rs4530104 0.57931
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.*2637A>G rs59712831 0.16772
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.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.*494A>G rs16958873 0.15870
NM_018648.4(NOP10):c.*136T>C rs3063 0.15629
NM_001365088.1(SLC12A6):c.-72-71G>A rs73374490 0.14812
NM_001365088.1(SLC12A6):c.*2804C>T rs59091709 0.11152
NM_001365088.1(SLC12A6):c.*3525C>T rs1133154 0.11134
NM_001365088.1(SLC12A6):c.*1963_*1964del rs61577073 0.11115
NM_001365088.1(SLC12A6):c.*1846C>G rs6495639 0.10640
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.1592-50A>G rs17236791 0.09549
NM_001365088.1(SLC12A6):c.2042+85G>A rs59209438 0.09524
NM_018648.4(NOP10):c.*149G>A rs7173 0.09458
NM_001365088.1(SLC12A6):c.*2523C>T rs191826889 0.06232
NM_001365088.1(SLC12A6):c.*824T>C rs75307067 0.06174
NM_001365088.1(SLC12A6):c.*3039_*3040insCT rs145421659 0.05957
NM_001365088.1(SLC12A6):c.*2516T>C rs199752906 0.05244
NM_001365088.1(SLC12A6):c.*3668T>A rs11544435 0.02645
NM_001365088.1(SLC12A6):c.2042+32C>A rs79436830 0.02352
NM_001365088.1(SLC12A6):c.*1098G>A rs117846663 0.02253
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.*2901T>A rs8039731 0.01711
NM_001365088.1(SLC12A6):c.*1725G>A rs76243307 0.01650
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_001365088.1(SLC12A6):c.*2293G>A rs200579522 0.01153
NM_001365088.1(SLC12A6):c.*1357C>T rs116076857 0.01112
NM_001365088.1(SLC12A6):c.*2659A>G rs142451941 0.01079
NM_018648.4(NOP10):c.*129G>A rs115413508 0.00972
NM_001365088.1(SLC12A6):c.*2289_*2293del rs886051041 0.00864
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.*3400C>T rs79634593 0.00811
NM_001365088.1(SLC12A6):c.*2852T>C rs117020610 0.00737
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.*2369C>T rs148928495 0.00563
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451 0.00554
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001365088.1(SLC12A6):c.*2289G>A rs113459768 0.00511
NM_001365088.1(SLC12A6):c.2935-7A>G rs184053916 0.00465
NM_001365088.1(SLC12A6):c.*2261G>A rs181064062 0.00391
NM_001365088.1(SLC12A6):c.*1130C>A rs142463396 0.00347
NM_001365088.1(SLC12A6):c.*1195A>G rs137985758 0.00346
NM_001365088.1(SLC12A6):c.*3388G>C rs189231487 0.00296
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001365088.1(SLC12A6):c.*203T>C rs547741348 0.00185
NM_001365088.1(SLC12A6):c.3120C>T (p.Thr1040=) rs571120129 0.00105
NM_001365088.1(SLC12A6):c.*639A>G rs553037996 0.00083
NM_001365088.1(SLC12A6):c.1752A>C (p.Gly584=) rs186888172 0.00067
NM_001365088.1(SLC12A6):c.*244G>A rs183696226 0.00063
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.*3842G>T rs552491692 0.00061
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
NM_001365088.1(SLC12A6):c.*3080G>C rs193075132 0.00053
NM_001365088.1(SLC12A6):c.*2516_*2517insTC rs538475109 0.00049
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=) rs144297460 0.00048
NM_001365088.1(SLC12A6):c.*2301G>T rs528941290 0.00047
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001365088.1(SLC12A6):c.*1249C>T rs765365636 0.00031
NM_001365088.1(SLC12A6):c.*2129T>C rs535022392 0.00029
NM_001365088.1(SLC12A6):c.*3755T>C rs557606663 0.00028
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.*2731G>A rs531551756 0.00027
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365088.1(SLC12A6):c.1943+15T>C rs200544602 0.00020
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_001365088.1(SLC12A6):c.*474C>T rs532826858 0.00018
NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=) rs141035492 0.00017
NM_001365088.1(SLC12A6):c.*691C>T rs753038190 0.00016
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His) rs375887656 0.00016
NM_001365088.1(SLC12A6):c.*3497C>T rs886051037 0.00014
NM_001365088.1(SLC12A6):c.*1493G>A rs773469501 0.00013
NM_001365088.1(SLC12A6):c.*2346C>T rs188296648 0.00013
NM_001365088.1(SLC12A6):c.*751T>C rs779634707 0.00013
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=) rs201062811 0.00013
NM_001365088.1(SLC12A6):c.*94G>C rs117540484 0.00012
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn) rs781088641 0.00011
NM_001365088.1(SLC12A6):c.*2088C>T rs886051043 0.00010
NM_001365088.1(SLC12A6):c.*3580G>T rs549855456 0.00010
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001365088.1(SLC12A6):c.*456A>C rs187535372 0.00009
NM_001365088.1(SLC12A6):c.*1201T>C rs886051050 0.00008
NM_001365088.1(SLC12A6):c.*2404C>T rs138724264 0.00008
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.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.*2899A>T rs76780516 0.00006
NM_001365088.1(SLC12A6):c.*762C>T rs562472403 0.00006
NM_001365088.1(SLC12A6):c.1369A>T (p.Ile457Phe) rs751420584 0.00006
NM_001365088.1(SLC12A6):c.1663G>A (p.Val555Met) rs140635276 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.918C>T (p.Asp306=) rs201041861 0.00006
NM_001365088.1(SLC12A6):c.176C>G (p.Pro59Arg) rs777459849 0.00005
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_001365088.1(SLC12A6):c.*2754G>A rs949366523 0.00004
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001365088.1(SLC12A6):c.1484C>G (p.Ser495Cys) rs373077646 0.00004
NM_001365088.1(SLC12A6):c.148A>C (p.Ser50Arg) rs746317063 0.00004
NM_001365088.1(SLC12A6):c.2412C>T (p.Tyr804=) rs773206972 0.00004
NM_001365088.1(SLC12A6):c.3228-15T>C rs376575991 0.00004
NM_001365088.1(SLC12A6):c.47T>C (p.Met16Thr) rs746665611 0.00004
NM_001365088.1(SLC12A6):c.885C>T (p.Ile295=) rs146726039 0.00004
NM_001365088.1(SLC12A6):c.924C>G (p.Leu308=) rs372465430 0.00004
NM_001365088.1(SLC12A6):c.958G>A (p.Val320Ile) rs752427635 0.00004
NM_001365088.1(SLC12A6):c.*1568G>A rs886051047 0.00003
NM_001365088.1(SLC12A6):c.*1627T>C rs886051046 0.00003
NM_001365088.1(SLC12A6):c.*2220A>G rs886051042 0.00003
NM_001365088.1(SLC12A6):c.*3807_*3808del rs886051035 0.00003
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=) rs35855196 0.00003
NM_001365088.1(SLC12A6):c.1242A>G (p.Gln414=) rs1464322097 0.00003
NM_001365088.1(SLC12A6):c.1659T>C (p.Asp553=) rs750940125 0.00003
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.316+2dup rs778694021 0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001365088.1(SLC12A6):c.455G>A (p.Arg152His) rs200361670 0.00003
NM_001365088.1(SLC12A6):c.*1149C>G rs1420791026 0.00002
NM_001365088.1(SLC12A6):c.*2017T>A rs1348991725 0.00002
NM_001365088.1(SLC12A6):c.*2029T>C rs1053131287 0.00002
NM_001365088.1(SLC12A6):c.*707G>A rs886051052 0.00002
NM_001365088.1(SLC12A6):c.168G>A (p.Arg56=) rs886051056 0.00002
NM_001365088.1(SLC12A6):c.1825-16T>C rs763005505 0.00002
NM_001365088.1(SLC12A6):c.1998A>G (p.Leu666=) rs761707485 0.00002
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter) rs751184319 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.271+17774G>C rs757242571 0.00002
NM_001365088.1(SLC12A6):c.2859T>C (p.Ser953=) rs776132941 0.00002
NM_001365088.1(SLC12A6):c.2935-11G>C rs770370694 0.00002
NM_001365088.1(SLC12A6):c.294A>G (p.Thr98=) rs1894230939 0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=) rs774081365 0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=) rs753466496 0.00002
NM_001365088.1(SLC12A6):c.*1234A>G rs886051048 0.00001
NM_001365088.1(SLC12A6):c.*1815C>T rs886051045 0.00001
NM_001365088.1(SLC12A6):c.*2311A>G rs1890932964 0.00001
NM_001365088.1(SLC12A6):c.*2342C>T rs1352055490 0.00001
NM_001365088.1(SLC12A6):c.*3482C>G rs1019970553 0.00001
NM_001365088.1(SLC12A6):c.*461G>A rs1891061242 0.00001
NM_001365088.1(SLC12A6):c.-9A>G rs760840867 0.00001
NM_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=) rs373193470 0.00001
NM_001365088.1(SLC12A6):c.1065C>G (p.Ile355Met) rs1229903219 0.00001
NM_001365088.1(SLC12A6):c.1079C>G (p.Ala360Gly) rs1386170769 0.00001
NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu) rs774246639 0.00001
NM_001365088.1(SLC12A6):c.1118+4C>T rs773294017 0.00001
NM_001365088.1(SLC12A6):c.1260T>C (p.Cys420=) rs1226622652 0.00001
NM_001365088.1(SLC12A6):c.142C>T (p.Arg48Trp) rs1306630198 0.00001
NM_001365088.1(SLC12A6):c.1457C>T (p.Thr486Met) rs748315324 0.00001
NM_001365088.1(SLC12A6):c.1614T>G (p.Phe538Leu) rs1057520062 0.00001
NM_001365088.1(SLC12A6):c.1671T>A (p.Gly557=) rs757602343 0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala) rs747694318 0.00001
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.2109C>T (p.Ala703=) rs928370333 0.00001
NM_001365088.1(SLC12A6):c.2323C>T (p.Arg775Cys) rs753271582 0.00001
NM_001365088.1(SLC12A6):c.240C>T (p.Asp80=) rs201684992 0.00001
NM_001365088.1(SLC12A6):c.2509_2510insTC (p.Glu837fs) rs1184523433 0.00001
NM_001365088.1(SLC12A6):c.271+17732A>G rs781478530 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.2961T>G (p.Thr987=) rs747237563 0.00001
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) rs121908427 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile) rs759559343 0.00001
NM_001365088.1(SLC12A6):c.524G>A (p.Gly175Glu) rs764119511 0.00001
NM_001365088.1(SLC12A6):c.546C>T (p.Thr182=) rs775527538 0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429 0.00001
NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter) rs897661402 0.00001
NM_001365088.1(SLC12A6):c.940A>T (p.Met314Leu) rs34491959 0.00001
NM_001365088.1(SLC12A6):c.953T>C (p.Met318Thr) rs777759928 0.00001
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser) rs75235010 0.00001
NM_001365088.1(SLC12A6):c.*1087C>A rs4779660
NM_001365088.1(SLC12A6):c.*1211T>C rs886051049
NM_001365088.1(SLC12A6):c.*1607G>T rs1891000195
NM_001365088.1(SLC12A6):c.*171C>G rs746999362
NM_001365088.1(SLC12A6):c.*2039C>T rs886051044
NM_001365088.1(SLC12A6):c.*2127A>C rs931619573
NM_001365088.1(SLC12A6):c.*2139T>C rs1890960167
NM_001365088.1(SLC12A6):c.*2289GAAA[3] rs148811864
NM_001365088.1(SLC12A6):c.*2289_*2291del rs748613902
NM_001365088.1(SLC12A6):c.*2289_*2294del rs377402786
NM_001365088.1(SLC12A6):c.*2358_*2360del rs547947247
NM_001365088.1(SLC12A6):c.*2516dup rs77227436
NM_001365088.1(SLC12A6):c.*2518dup rs748128930
NM_001365088.1(SLC12A6):c.*2660C>G rs1890901344
NM_001365088.1(SLC12A6):c.*2684A>G rs886051040
NM_001365088.1(SLC12A6):c.*277A>G rs892177326
NM_001365088.1(SLC12A6):c.*2829G>A rs1181571458
NM_001365088.1(SLC12A6):c.*2909del rs886051039
NM_001365088.1(SLC12A6):c.*3139GTCT[1] rs143386876
NM_001365088.1(SLC12A6):c.*3162T>G rs886051038
NM_001365088.1(SLC12A6):c.*3219G>A rs1213035416
NM_001365088.1(SLC12A6):c.*3309del rs566619994
NM_001365088.1(SLC12A6):c.*3520C>G rs886051036
NM_001365088.1(SLC12A6):c.*3672A>G rs182573709
NM_001365088.1(SLC12A6):c.*3731dup rs566558212
NM_001365088.1(SLC12A6):c.*3828T>G rs1890819378
NM_001365088.1(SLC12A6):c.*38A>C rs969900949
NM_001365088.1(SLC12A6):c.*626T>G rs912650390
NM_001365088.1(SLC12A6):c.*695C>G rs886051053
NM_001365088.1(SLC12A6):c.*719dup rs775648289
NM_001365088.1(SLC12A6):c.*826C>T rs886051051
NM_001365088.1(SLC12A6):c.*876G>A rs185668908
NM_001365088.1(SLC12A6):c.*879C>T rs1290930021
NM_001365088.1(SLC12A6):c.*906G>C rs879186866
NM_001365088.1(SLC12A6):c.*912A>C rs1420495773
NM_001365088.1(SLC12A6):c.*918G>C rs888346162
NM_001365088.1(SLC12A6):c.*987G>A rs1769944086
NM_001365088.1(SLC12A6):c.-26C>G rs886051057
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1099T>G (p.Phe367Val) rs767723184
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1148C>A (p.Ser383Ter)
NM_001365088.1(SLC12A6):c.1151C>A (p.Ser384Ter)
NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter) rs1892451015
NM_001365088.1(SLC12A6):c.1199C>T (p.Thr400Ile) rs1892447285
NM_001365088.1(SLC12A6):c.1218G>A (p.Trp406Ter)
NM_001365088.1(SLC12A6):c.1219_1220del (p.Gly407fs)
NM_001365088.1(SLC12A6):c.1221dup (p.Phe408fs)
NM_001365088.1(SLC12A6):c.1291_1292del (p.Ser431fs)
NM_001365088.1(SLC12A6):c.1318delinsGTCTCTTATACACATCT (p.Ser440fs)
NM_001365088.1(SLC12A6):c.1385del (p.Pro461_Ser462insTer)
NM_001365088.1(SLC12A6):c.1409G>T (p.Gly470Val) rs886051054
NM_001365088.1(SLC12A6):c.1471_1473delinsTTCCATTCCAT (p.Ile491fs)
NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs) rs515726218
NM_001365088.1(SLC12A6):c.1492+9A>G rs1566811997
NM_001365088.1(SLC12A6):c.1494_1499del (p.Ile499_Met500del) rs1555379651
NM_001365088.1(SLC12A6):c.1519G>T (p.Gly507Ter)
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup) rs1342378279
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala) rs1555379629
NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs) rs515726216
NM_001365088.1(SLC12A6):c.1591+3A>G rs2140726249
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.1650-1G>C rs1555378707
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001365088.1(SLC12A6):c.1711dup (p.Val571fs)
NM_001365088.1(SLC12A6):c.1749T>C (p.Ala583=) rs1891939939
NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg) rs1555392885
NM_001365088.1(SLC12A6):c.17CCA[2] (p.Thr8del) rs768255547
NM_001365088.1(SLC12A6):c.1820del (p.Leu607fs)
NM_001365088.1(SLC12A6):c.1822_1823del (p.Arg608fs)
NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser) rs201468351
NM_001365088.1(SLC12A6):c.1858del (p.Thr620fs)
NM_001365088.1(SLC12A6):c.1931dup (p.Ile645fs)
NM_001365088.1(SLC12A6):c.1944-10del rs769896374
NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)
NM_001365088.1(SLC12A6):c.1972_1973del (p.Asn658fs)
NM_001365088.1(SLC12A6):c.1997T>A (p.Leu666Ter)
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs) rs515726217
NM_001365088.1(SLC12A6):c.2075T>G (p.Leu692Arg) rs1595411684
NM_001365088.1(SLC12A6):c.2100del (p.Trp700fs)
NM_001365088.1(SLC12A6):c.2153_2156dup (p.Tyr719Ter)
NM_001365088.1(SLC12A6):c.2162+1G>A rs1555377971
NM_001365088.1(SLC12A6):c.2163-14del rs771321354
NM_001365088.1(SLC12A6):c.2180dup (p.Gly727_Asp728insTer)
NM_001365088.1(SLC12A6):c.2260_2266delinsCTGGT (p.Asn754fs)
NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)
NM_001365088.1(SLC12A6):c.2265_2266delinsTAGATT (p.Trp755fs)
NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)
NM_001365088.1(SLC12A6):c.2285T>A (p.Leu762Ter)
NM_001365088.1(SLC12A6):c.2304dup (p.His770fs)
NM_001365088.1(SLC12A6):c.2360A>G (p.Lys787Arg) rs1891585076
NM_001365088.1(SLC12A6):c.2401del (p.Phe800_Leu801insTer)
NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter) rs1057516271
NM_001365088.1(SLC12A6):c.2423dup (p.Leu808fs) rs1057516435
NM_001365088.1(SLC12A6):c.2430_2431delinsA (p.Glu811fs)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2437-2A>G rs1057516337
NM_001365088.1(SLC12A6):c.2444del (p.Lys815fs)
NM_001365088.1(SLC12A6):c.2452del (p.Met818fs)
NM_001365088.1(SLC12A6):c.2482del (p.Gln828fs)
NM_001365088.1(SLC12A6):c.250dup (p.His84fs) rs1057518713
NM_001365088.1(SLC12A6):c.2533dup (p.Ser845fs)
NM_001365088.1(SLC12A6):c.2535_2536del (p.Cys846fs)
NM_001365088.1(SLC12A6):c.2593C>A (p.Arg865Ser) rs766850109
NM_001365088.1(SLC12A6):c.2632+1G>A rs1057516925
NM_001365088.1(SLC12A6):c.2633-1G>A rs1555377252
NM_001365088.1(SLC12A6):c.2641C>A (p.Arg881=) rs1891418018
NM_001365088.1(SLC12A6):c.2648_2649insT (p.Thr884fs)
NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del) rs1555377235
NM_001365088.1(SLC12A6):c.2691CTT[1] (p.Phe899del) rs766009881
NM_001365088.1(SLC12A6):c.2700del (p.Ser901fs)
NM_001365088.1(SLC12A6):c.271+17647C>G rs347867
NM_001365088.1(SLC12A6):c.271+17732A>C rs781478530
NM_001365088.1(SLC12A6):c.271+17808T>G rs137998688
NM_001365088.1(SLC12A6):c.271+2T>C
NM_001365088.1(SLC12A6):c.2736dup (p.Val913fs)
NM_001365088.1(SLC12A6):c.2803-1G>C rs1057516378
NM_001365088.1(SLC12A6):c.2803-1G>T rs1057516378
NM_001365088.1(SLC12A6):c.281_294del (p.Gln94fs) rs1555384171
NM_001365088.1(SLC12A6):c.286_287del (p.Ser96fs)
NM_001365088.1(SLC12A6):c.288dup (p.Ile97fs)
NM_001365088.1(SLC12A6):c.2924_2928dup (p.Glu977fs)
NM_001365088.1(SLC12A6):c.2929_2932delinsAGT (p.Glu977fs)
NM_001365088.1(SLC12A6):c.2935-5dup rs771183227
NM_001365088.1(SLC12A6):c.2950_2959del (p.Ser984fs) rs1057517334
NM_001365088.1(SLC12A6):c.2962_2963dup (p.Glu989fs) rs2140641550
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter) rs573444140
NM_001365088.1(SLC12A6):c.298del (p.Glu100fs) rs1555384169
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3005G>A (p.Arg1002Gln) rs778685963
NM_001365088.1(SLC12A6):c.3012dup (p.Arg1005fs)
NM_001365088.1(SLC12A6):c.3016del (p.Leu1006fs)
NM_001365088.1(SLC12A6):c.3021del (p.Thr1009fs)
NM_001365088.1(SLC12A6):c.3029_3030del (p.Glu1010fs)
NM_001365088.1(SLC12A6):c.3076C>T (p.Arg1026Ter) rs752155450
NM_001365088.1(SLC12A6):c.3093C>G (p.Gly1031=) rs765914635
NM_001365088.1(SLC12A6):c.3102G>A (p.Glu1034=) rs762351597
NM_001365088.1(SLC12A6):c.3120C>G (p.Thr1040=) rs571120129
NM_001365088.1(SLC12A6):c.3123T>A (p.Tyr1041Ter)
NM_001365088.1(SLC12A6):c.316+1G>A rs1462170681
NM_001365088.1(SLC12A6):c.316+6G>C rs1894227805
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365088.1(SLC12A6):c.3174G>T (p.Arg1058=) rs1333110524
NM_001365088.1(SLC12A6):c.3176del (p.Gly1059fs)
NM_001365088.1(SLC12A6):c.3216dup (p.Asn1073Ter) rs1555376818
NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs) rs1057517289
NM_001365088.1(SLC12A6):c.3227+1G>A rs1057516969
NM_001365088.1(SLC12A6):c.3227+2dup
NM_001365088.1(SLC12A6):c.3270C>G (p.Leu1090=) rs1891174701
NM_001365088.1(SLC12A6):c.329_330delinsT (p.Lys110fs)
NM_001365088.1(SLC12A6):c.3304_3308del (p.Lys1102fs) rs1057516752
NM_001365088.1(SLC12A6):c.3321del (p.Asn1107fs)
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter) rs768514327
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter) rs1555376688
NM_001365088.1(SLC12A6):c.3361+2T>G rs1555376682
NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter) rs1054429141
NM_001365088.1(SLC12A6):c.3452A>C (p.Ter1151Ser) rs1555376519
NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val) rs759907642
NM_001365088.1(SLC12A6):c.388_392delinsTAT (p.Asp130fs)
NM_001365088.1(SLC12A6):c.391A>T (p.Lys131Ter)
NM_001365088.1(SLC12A6):c.411+10del rs377536268
NM_001365088.1(SLC12A6):c.413A>C (p.Glu138Ala) rs1892933679
NM_001365088.1(SLC12A6):c.519_520del (p.Glu174fs)
NM_001365088.1(SLC12A6):c.526A>T (p.Lys176Ter)
NM_001365088.1(SLC12A6):c.543+2T>G rs1555381538
NM_001365088.1(SLC12A6):c.543+6G>T rs886051055
NM_001365088.1(SLC12A6):c.549_550del (p.Gln184fs)
NM_001365088.1(SLC12A6):c.550dup (p.Gln184fs) rs1057517109
NM_001365088.1(SLC12A6):c.557del (p.Gly186fs)
NM_001365088.1(SLC12A6):c.559_560del (p.Thr187fs)
NM_001365088.1(SLC12A6):c.55C>T (p.Pro19Ser) rs1890217851
NM_001365088.1(SLC12A6):c.571G>A (p.Val191Ile) rs1892852155
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.589C>T (p.Gln197Ter)
NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter) rs1057516898
NM_001365088.1(SLC12A6):c.63G>C (p.Lys21Asn) rs571064840
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter) rs1057516456
NM_001365088.1(SLC12A6):c.658G>T (p.Ala220Ser) rs1892846270
NM_001365088.1(SLC12A6):c.745+1G>T rs1595442984
NM_001365088.1(SLC12A6):c.745+2T>A rs1555380998
NM_001365088.1(SLC12A6):c.852C>G (p.Ile284Met) rs1467033571
NM_001365088.1(SLC12A6):c.861C>T (p.Ala287=) rs760276522
NM_001365088.1(SLC12A6):c.862A>G (p.Ile288Val) rs1892670698
NM_001365088.1(SLC12A6):c.900_909del (p.Ile301fs)
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365088.1(SLC12A6):c.930del (p.Glu310fs)
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter) rs35583475
NM_001365088.1(SLC12A6):c.981_985del (p.Leu328fs)
NM_001365088.1(SLC12A6):c.984del (p.Met329fs)
NM_001365088.1(SLC12A6):c.992T>A (p.Leu331Ter)
NM_133647.2(SLC12A6):c.320_322del rs758672590

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.