ClinVar Miner

List of variants in gene SLC12A5 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 766
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.2100G>A (p.Ala700=) rs6032635 0.98449
NM_020708.5(SLC12A5):c.2280C>T (p.Ser760=) rs3746522 0.16926
NM_020708.5(SLC12A5):c.2361G>A (p.Thr787=) rs17344810 0.09686
NM_020708.5(SLC12A5):c.357G>T (p.Arg119=) rs77659338 0.06862
NM_020708.5(SLC12A5):c.1512G>A (p.Thr504=) rs41282782 0.05088
NM_020708.5(SLC12A5):c.1150C>G (p.Pro384Ala) rs16985442 0.04777
NM_020708.5(SLC12A5):c.482-19T>C rs77623489 0.04769
NM_020708.5(SLC12A5):c.2012+3T>A rs12481488 0.03011
NM_020708.5(SLC12A5):c.355C>A (p.Arg119=) rs3848724 0.02859
NM_020708.5(SLC12A5):c.534T>C (p.Gly178=) rs3746519 0.02856
NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=) rs35804246 0.02850
NM_020708.5(SLC12A5):c.2100= (p.Ala700=) rs6032635 0.01551
NM_020708.5(SLC12A5):c.2292G>T (p.Gly764=) rs79522550 0.01094
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_020708.5(SLC12A5):c.2403C>T (p.Gly801=) rs35981087 0.00442
NM_020708.5(SLC12A5):c.1569+13G>A rs75931039 0.00297
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) rs143969641 0.00212
NM_020708.5(SLC12A5):c.2805T>C (p.Asp935=) rs151293924 0.00186
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_020708.5(SLC12A5):c.2680-3C>T rs141933171 0.00070
NM_020708.5(SLC12A5):c.93C>T (p.Ser31=) rs145033801 0.00063
NM_020708.5(SLC12A5):c.1431C>T (p.Gly477=) rs538711126 0.00054
NM_020708.5(SLC12A5):c.3126-3dup rs767708918 0.00049
NM_020708.5(SLC12A5):c.276G>C (p.Val92=) rs141848967 0.00045
NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=) rs41282784 0.00044
NM_020708.5(SLC12A5):c.2377+10T>C rs369281155 0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_020708.5(SLC12A5):c.808A>G (p.Ile270Val) rs753714930 0.00037
NM_020708.5(SLC12A5):c.286C>T (p.Arg96Cys) rs145700012 0.00035
NM_020708.5(SLC12A5):c.2378-18C>A rs199747973 0.00034
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) rs201525976 0.00032
NM_020708.5(SLC12A5):c.1941T>G (p.Gly647=) rs148489203 0.00030
NM_020708.5(SLC12A5):c.1989G>C (p.Gly663=) rs373648545 0.00029
NM_020708.5(SLC12A5):c.2548-8G>A rs180864043 0.00029
NM_020708.5(SLC12A5):c.936G>A (p.Thr312=) rs150595305 0.00026
NM_020708.5(SLC12A5):c.942C>T (p.Thr314=) rs143072268 0.00026
NM_020708.5(SLC12A5):c.2013-10C>T rs374272959 0.00025
NM_020708.5(SLC12A5):c.2547+13C>T rs374783489 0.00024
NM_020708.5(SLC12A5):c.2776C>T (p.Arg926Trp) rs370818838 0.00023
NM_020708.5(SLC12A5):c.2547+14G>A rs368044730 0.00021
NM_020708.5(SLC12A5):c.2118C>T (p.Ile706=) rs3746521 0.00018
NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu) rs780511606 0.00016
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_020708.5(SLC12A5):c.481+11G>A rs191849612 0.00013
NM_020708.5(SLC12A5):c.53-3C>T rs367992610 0.00013
NM_020708.5(SLC12A5):c.1977C>A (p.Arg659=) rs1397496364 0.00012
NM_020708.5(SLC12A5):c.273G>A (p.Pro91=) rs183377866 0.00012
NM_020708.5(SLC12A5):c.1237+6G>A rs200873569 0.00011
NM_020708.5(SLC12A5):c.2499C>T (p.His833=) rs371925559 0.00011
NM_020708.5(SLC12A5):c.279+11C>T rs367964567 0.00011
NM_020708.5(SLC12A5):c.834C>T (p.Ala278=) rs138250479 0.00011
NM_020708.5(SLC12A5):c.2430C>T (p.Asn810=) rs540937956 0.00010
NM_020708.5(SLC12A5):c.1148C>T (p.Thr383Ile) rs201727005 0.00009
NM_020708.5(SLC12A5):c.1401C>T (p.Gly467=) rs545847050 0.00009
NM_020708.5(SLC12A5):c.1926C>T (p.Gly642=) rs748908890 0.00009
NM_020708.5(SLC12A5):c.2840C>G (p.Ala947Gly) rs199934904 0.00009
NM_020708.5(SLC12A5):c.2182-11C>A rs369990409 0.00008
NM_020708.5(SLC12A5):c.2787+3G>A rs372923917 0.00008
NM_020708.5(SLC12A5):c.117G>A (p.Glu39=) rs751664445 0.00007
NM_020708.5(SLC12A5):c.318G>A (p.Pro106=) rs200144342 0.00007
NM_020708.5(SLC12A5):c.36T>C (p.Asp12=) rs998267168 0.00007
NM_020708.5(SLC12A5):c.630C>T (p.Ala210=) rs913680770 0.00007
NM_020708.5(SLC12A5):c.1317C>T (p.Ile439=) rs10460627 0.00006
NM_020708.5(SLC12A5):c.1381G>A (p.Val461Ile) rs201487205 0.00006
NM_020708.5(SLC12A5):c.1788-9C>T rs773585521 0.00006
NM_020708.5(SLC12A5):c.1936C>A (p.Arg646=) rs771263913 0.00006
NM_020708.5(SLC12A5):c.1956G>A (p.Ala652=) rs190924143 0.00006
NM_020708.5(SLC12A5):c.2012+14G>T rs1180929890 0.00006
NM_020708.5(SLC12A5):c.2210A>G (p.Lys737Arg) rs774596447 0.00006
NM_020708.5(SLC12A5):c.2649C>T (p.Arg883=) rs746516978 0.00006
NM_020708.5(SLC12A5):c.279+12G>A rs373707676 0.00006
NM_020708.5(SLC12A5):c.2911-19C>T rs202150692 0.00006
NM_020708.5(SLC12A5):c.2961G>A (p.Pro987=) rs550491448 0.00006
NM_020708.5(SLC12A5):c.3126-15T>C rs199825251 0.00006
NM_020708.5(SLC12A5):c.939G>C (p.Val313=) rs149300952 0.00006
NM_020708.5(SLC12A5):c.947G>A (p.Arg316Gln) rs144471748 0.00006
NM_020708.5(SLC12A5):c.1128G>A (p.Ser376=) rs6073997 0.00005
NM_020708.5(SLC12A5):c.1140C>T (p.Ala380=) rs767985242 0.00005
NM_020708.5(SLC12A5):c.2289C>T (p.Leu763=) rs138144890 0.00005
NM_020708.5(SLC12A5):c.2375T>A (p.Ile792Asn) rs769820337 0.00005
NM_020708.5(SLC12A5):c.1008C>T (p.Thr336=) rs367965141 0.00004
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met) rs778801242 0.00004
NM_020708.5(SLC12A5):c.116A>T (p.Glu39Val) rs376521903 0.00004
NM_020708.5(SLC12A5):c.1237+17A>G rs778108662 0.00004
NM_020708.5(SLC12A5):c.1416C>T (p.Gly472=) rs755729176 0.00004
NM_020708.5(SLC12A5):c.1558C>T (p.Pro520Ser) rs113818080 0.00004
NM_020708.5(SLC12A5):c.1665C>T (p.Asp555=) rs377347592 0.00004
NM_020708.5(SLC12A5):c.1773T>C (p.Phe591=) rs567520830 0.00004
NM_020708.5(SLC12A5):c.1908-19T>C rs1306943724 0.00004
NM_020708.5(SLC12A5):c.2017C>G (p.Gln673Glu) rs766589514 0.00004
NM_020708.5(SLC12A5):c.2338C>T (p.Arg780Cys) rs757395459 0.00004
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys) rs751841577 0.00004
NM_020708.5(SLC12A5):c.2601T>C (p.Asn867=) rs374813251 0.00004
NM_020708.5(SLC12A5):c.2910+3G>A rs758619527 0.00004
NM_020708.5(SLC12A5):c.3067C>G (p.Pro1023Ala) rs146580614 0.00004
NM_020708.5(SLC12A5):c.3083G>A (p.Gly1028Asp) rs367960887 0.00004
NM_020708.5(SLC12A5):c.3126-6C>A rs372120376 0.00004
NM_020708.5(SLC12A5):c.3181G>T (p.Val1061Leu) rs763066735 0.00004
NM_020708.5(SLC12A5):c.3228G>A (p.Gly1076=) rs767829797 0.00004
NM_020708.5(SLC12A5):c.372G>T (p.Val124=) rs750134396 0.00004
NM_020708.5(SLC12A5):c.401G>A (p.Cys134Tyr) rs377612895 0.00004
NM_020708.5(SLC12A5):c.42A>G (p.Gly14=) rs1464795415 0.00004
NM_020708.5(SLC12A5):c.699C>T (p.Tyr233=) rs200570265 0.00004
NM_020708.5(SLC12A5):c.1337-8T>C rs374330170 0.00003
NM_020708.5(SLC12A5):c.1955C>T (p.Ala652Val) rs1555865828 0.00003
NM_020708.5(SLC12A5):c.1961G>A (p.Arg654His) rs760824180 0.00003
NM_020708.5(SLC12A5):c.2028G>A (p.Val676=) rs141236407 0.00003
NM_020708.5(SLC12A5):c.2330G>A (p.Arg777His) rs749336515 0.00003
NM_020708.5(SLC12A5):c.2378-14T>C rs373346348 0.00003
NM_020708.5(SLC12A5):c.2790C>T (p.Ile930=) rs770662324 0.00003
NM_020708.5(SLC12A5):c.2854C>T (p.Arg952Cys) rs747552467 0.00003
NM_020708.5(SLC12A5):c.2860A>G (p.Asn954Asp) rs781354583 0.00003
NM_020708.5(SLC12A5):c.2862C>T (p.Asn954=) rs754601939 0.00003
NM_020708.5(SLC12A5):c.287G>A (p.Arg96His) rs756873079 0.00003
NM_020708.5(SLC12A5):c.2984G>C (p.Gly995Ala) rs376925159 0.00003
NM_020708.5(SLC12A5):c.3246T>C (p.Asn1082=) rs750376604 0.00003
NM_020708.5(SLC12A5):c.339C>T (p.Gly113=) rs145327140 0.00003
NM_020708.5(SLC12A5):c.537C>T (p.Ala179=) rs200444155 0.00003
NM_020708.5(SLC12A5):c.851T>G (p.Phe284Cys) rs1213597825 0.00003
NM_020708.5(SLC12A5):c.855-19C>T rs372069124 0.00003
NM_020708.5(SLC12A5):c.1005C>T (p.Phe335=) rs755725158 0.00002
NM_020708.5(SLC12A5):c.1348G>A (p.Val450Ile) rs745565201 0.00002
NM_020708.5(SLC12A5):c.1688+7G>A rs192325760 0.00002
NM_020708.5(SLC12A5):c.1972T>C (p.Leu658=) rs1448280832 0.00002
NM_020708.5(SLC12A5):c.2012+17C>T rs532073254 0.00002
NM_020708.5(SLC12A5):c.2036G>A (p.Arg679His) rs763612651 0.00002
NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=) rs764791575 0.00002
NM_020708.5(SLC12A5):c.2260G>A (p.Val754Met) rs551572064 0.00002
NM_020708.5(SLC12A5):c.2300A>G (p.Gln767Arg) rs995997850 0.00002
NM_020708.5(SLC12A5):c.2371T>C (p.Phe791Leu) rs776507788 0.00002
NM_020708.5(SLC12A5):c.2481C>T (p.Asp827=) rs368618520 0.00002
NM_020708.5(SLC12A5):c.2548-17C>T rs1478879529 0.00002
NM_020708.5(SLC12A5):c.2548-9C>T rs766436506 0.00002
NM_020708.5(SLC12A5):c.272C>T (p.Pro91Leu) rs1436913904 0.00002
NM_020708.5(SLC12A5):c.2841C>T (p.Ala947=) rs574591288 0.00002
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met) rs759314815 0.00002
NM_020708.5(SLC12A5):c.2893G>C (p.Glu965Gln) rs776262547 0.00002
NM_020708.5(SLC12A5):c.2935G>A (p.Ala979Thr) rs751920054 0.00002
NM_020708.5(SLC12A5):c.2967A>G (p.Pro989=) rs1441127714 0.00002
NM_020708.5(SLC12A5):c.297C>A (p.Thr99=) rs776585463 0.00002
NM_020708.5(SLC12A5):c.3003G>A (p.Pro1001=) rs757482980 0.00002
NM_020708.5(SLC12A5):c.30C>A (p.Asp10Glu) rs933771451 0.00002
NM_020708.5(SLC12A5):c.3110+18A>C rs202018911 0.00002
NM_020708.5(SLC12A5):c.3142C>T (p.Arg1048Trp) rs369042030 0.00002
NM_020708.5(SLC12A5):c.3259+18T>C rs754552673 0.00002
NM_020708.5(SLC12A5):c.438G>A (p.Thr146=) rs1345353699 0.00002
NM_020708.5(SLC12A5):c.612+15G>A rs764677515 0.00002
NM_020708.5(SLC12A5):c.772G>A (p.Val258Ile) rs915523015 0.00002
NM_020708.5(SLC12A5):c.955G>A (p.Gly319Ser) rs765018314 0.00002
NM_020708.5(SLC12A5):c.958C>T (p.Leu320Phe) rs916790849 0.00002
NM_020708.5(SLC12A5):c.1023A>G (p.Thr341=) rs1224748748 0.00001
NM_020708.5(SLC12A5):c.1035C>T (p.Gly345=) rs747195101 0.00001
NM_020708.5(SLC12A5):c.1072C>G (p.Leu358Val) rs200514600 0.00001
NM_020708.5(SLC12A5):c.1101G>T (p.Val367=) rs745635839 0.00001
NM_020708.5(SLC12A5):c.1156G>A (p.Asp386Asn) rs200798560 0.00001
NM_020708.5(SLC12A5):c.1203C>T (p.Thr401=) rs1357953426 0.00001
NM_020708.5(SLC12A5):c.125G>A (p.Gly42Asp) rs1281331190 0.00001
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) rs140326431 0.00001
NM_020708.5(SLC12A5):c.1308C>T (p.Ile436=) rs1366527252 0.00001
NM_020708.5(SLC12A5):c.1318G>A (p.Ala440Thr) rs769231047 0.00001
NM_020708.5(SLC12A5):c.1333G>A (p.Val445Ile) rs1600597599 0.00001
NM_020708.5(SLC12A5):c.1369A>G (p.Ile457Val) rs772414812 0.00001
NM_020708.5(SLC12A5):c.1380C>T (p.Val460=) rs2084571064 0.00001
NM_020708.5(SLC12A5):c.1395-3C>T rs760459724 0.00001
NM_020708.5(SLC12A5):c.1402G>A (p.Glu468Lys) rs564134718 0.00001
NM_020708.5(SLC12A5):c.1422C>T (p.Leu474=) rs371872977 0.00001
NM_020708.5(SLC12A5):c.147+18T>G rs745748778 0.00001
NM_020708.5(SLC12A5):c.1485C>T (p.Thr495=) rs748652503 0.00001
NM_020708.5(SLC12A5):c.1570-3C>G rs1371403151 0.00001
NM_020708.5(SLC12A5):c.1590C>T (p.Ala530=) rs2084590822 0.00001
NM_020708.5(SLC12A5):c.1619T>C (p.Leu540Pro) rs149824011 0.00001
NM_020708.5(SLC12A5):c.1636G>C (p.Glu546Gln) rs1364136088 0.00001
NM_020708.5(SLC12A5):c.1662C>T (p.Leu554=) rs570128689 0.00001
NM_020708.5(SLC12A5):c.1680C>T (p.Ile560=) rs752463505 0.00001
NM_020708.5(SLC12A5):c.1725C>T (p.Ala575=) rs780184051 0.00001
NM_020708.5(SLC12A5):c.1740G>A (p.Thr580=) rs200135706 0.00001
NM_020708.5(SLC12A5):c.1774C>A (p.Arg592=) rs774420123 0.00001
NM_020708.5(SLC12A5):c.186C>T (p.Leu62=) rs746245950 0.00001
NM_020708.5(SLC12A5):c.1893C>T (p.Tyr631=) rs758192433 0.00001
NM_020708.5(SLC12A5):c.1899G>A (p.Glu633=) rs984368300 0.00001
NM_020708.5(SLC12A5):c.18G>A (p.Thr6=) rs1193496783 0.00001
NM_020708.5(SLC12A5):c.1920G>A (p.Glu640=) rs777473085 0.00001
NM_020708.5(SLC12A5):c.1975C>T (p.Arg659Cys) rs1173713421 0.00001
NM_020708.5(SLC12A5):c.1983G>A (p.Glu661=) rs1179563553 0.00001
NM_020708.5(SLC12A5):c.2012+19G>A rs2084613688 0.00001
NM_020708.5(SLC12A5):c.2012+20G>C rs756884412 0.00001
NM_020708.5(SLC12A5):c.2013-7T>C rs1404275032 0.00001
NM_020708.5(SLC12A5):c.2041G>A (p.Asp681Asn) rs753266125 0.00001
NM_020708.5(SLC12A5):c.2085C>T (p.Thr695=) rs747468488 0.00001
NM_020708.5(SLC12A5):c.2088C>T (p.Ser696=) rs1383866766 0.00001
NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu) rs890647462 0.00001
NM_020708.5(SLC12A5):c.2163G>A (p.Gln721=) rs1423882969 0.00001
NM_020708.5(SLC12A5):c.2165C>T (p.Ala722Val) rs1301239632 0.00001
NM_020708.5(SLC12A5):c.2171G>A (p.Arg724Gln) rs763907201 0.00001
NM_020708.5(SLC12A5):c.2181+18T>C rs764842773 0.00001
NM_020708.5(SLC12A5):c.2181+9A>G rs753882744 0.00001
NM_020708.5(SLC12A5):c.2191C>T (p.Arg731Cys) rs1197752454 0.00001
NM_020708.5(SLC12A5):c.2252G>A (p.Arg751His) rs377709894 0.00001
NM_020708.5(SLC12A5):c.2296C>A (p.Leu766Met) rs753106879 0.00001
NM_020708.5(SLC12A5):c.2377+19G>T rs759266825 0.00001
NM_020708.5(SLC12A5):c.2377+5C>T rs903951175 0.00001
NM_020708.5(SLC12A5):c.2378-20C>G rs377253900 0.00001
NM_020708.5(SLC12A5):c.2387G>A (p.Arg796Gln) rs1365579102 0.00001
NM_020708.5(SLC12A5):c.2431G>A (p.Val811Ile) rs201152687 0.00001
NM_020708.5(SLC12A5):c.2459G>A (p.Arg820His) rs1179723675 0.00001
NM_020708.5(SLC12A5):c.2541C>A (p.His847Gln) rs1190180234 0.00001
NM_020708.5(SLC12A5):c.2547+16G>C rs755275909 0.00001
NM_020708.5(SLC12A5):c.2554C>T (p.Arg852Trp) rs1332402437 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 0.00001
NM_020708.5(SLC12A5):c.2678T>C (p.Met893Thr) rs200461513 0.00001
NM_020708.5(SLC12A5):c.2679+20C>T rs767719655 0.00001
NM_020708.5(SLC12A5):c.2679+8C>T rs771536557 0.00001
NM_020708.5(SLC12A5):c.2688C>T (p.Ser896=) rs561222589 0.00001
NM_020708.5(SLC12A5):c.2718G>A (p.Thr906=) rs376060282 0.00001
NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His) rs764216462 0.00001
NM_020708.5(SLC12A5):c.2829A>G (p.Arg943=) rs374273794 0.00001
NM_020708.5(SLC12A5):c.2844C>T (p.Asn948=) rs1273740578 0.00001
NM_020708.5(SLC12A5):c.2846C>T (p.Thr949Met) rs758888959 0.00001
NM_020708.5(SLC12A5):c.2877G>A (p.Thr959=) rs771915911 0.00001
NM_020708.5(SLC12A5):c.2879C>G (p.Ala960Gly) rs775224780 0.00001
NM_020708.5(SLC12A5):c.2880T>C (p.Ala960=) rs760701805 0.00001
NM_020708.5(SLC12A5):c.2885A>G (p.Asp962Gly) rs1284519025 0.00001
NM_020708.5(SLC12A5):c.2910+7A>C rs370981994 0.00001
NM_020708.5(SLC12A5):c.2911-18G>A rs371561644 0.00001
NM_020708.5(SLC12A5):c.2933G>A (p.Ser978Asn) rs1216388861 0.00001
NM_020708.5(SLC12A5):c.2942G>A (p.Ser981Asn) rs2084694133 0.00001
NM_020708.5(SLC12A5):c.3002C>G (p.Pro1001Arg) rs749426883 0.00001
NM_020708.5(SLC12A5):c.3062C>T (p.Pro1021Leu) rs1206199358 0.00001
NM_020708.5(SLC12A5):c.306C>T (p.Gly102=) rs907254238 0.00001
NM_020708.5(SLC12A5):c.3110+4C>T rs781152138 0.00001
NM_020708.5(SLC12A5):c.3120G>A (p.Glu1040=) rs761882854 0.00001
NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu) rs529949253 0.00001
NM_020708.5(SLC12A5):c.3143G>A (p.Arg1048Gln) rs1291356001 0.00001
NM_020708.5(SLC12A5):c.3145C>T (p.Arg1049Cys) rs548424453 0.00001
NM_020708.5(SLC12A5):c.3156G>C (p.Thr1052=) rs200558731 0.00001
NM_020708.5(SLC12A5):c.315G>A (p.Leu105=) rs774143848 0.00001
NM_020708.5(SLC12A5):c.3242G>T (p.Arg1081Leu) rs376095009 0.00001
NM_020708.5(SLC12A5):c.3252T>C (p.Asp1084=) rs751114001 0.00001
NM_020708.5(SLC12A5):c.3259+20G>T rs767118034 0.00001
NM_020708.5(SLC12A5):c.336T>G (p.Phe112Leu) rs2084493854 0.00001
NM_020708.5(SLC12A5):c.340G>A (p.Val114Ile) rs760750912 0.00001
NM_020708.5(SLC12A5):c.348C>A (p.Leu116=) rs1358161315 0.00001
NM_020708.5(SLC12A5):c.427-16A>T rs781525443 0.00001
NM_020708.5(SLC12A5):c.465G>A (p.Thr155=) rs376632862 0.00001
NM_020708.5(SLC12A5):c.474T>A (p.Val158=) rs750160565 0.00001
NM_020708.5(SLC12A5):c.52+13C>T rs1212644121 0.00001
NM_020708.5(SLC12A5):c.52G>A (p.Gly18Ser) rs1399171674 0.00001
NM_020708.5(SLC12A5):c.53-16C>T rs1195604412 0.00001
NM_020708.5(SLC12A5):c.555C>T (p.Tyr185=) rs1472803142 0.00001
NM_020708.5(SLC12A5):c.591G>C (p.Leu197=) rs558027479 0.00001
NM_020708.5(SLC12A5):c.594C>T (p.Gly198=) rs1438984495 0.00001
NM_020708.5(SLC12A5):c.692G>A (p.Arg231His) rs1555863134 0.00001
NM_020708.5(SLC12A5):c.711G>A (p.Val237=) rs750550342 0.00001
NM_020708.5(SLC12A5):c.762G>A (p.Lys254=) rs1046062288 0.00001
NM_020708.5(SLC12A5):c.861C>T (p.Cys287=) rs375155469 0.00001
NM_020708.5(SLC12A5):c.900T>C (p.Asp300=) rs765877175 0.00001
NM_020708.5(SLC12A5):c.908C>G (p.Ala303Gly) rs751140061 0.00001
NM_020708.5(SLC12A5):c.916G>A (p.Ala306Thr) rs2084545554 0.00001
NM_020708.5(SLC12A5):c.937G>A (p.Val313Met) rs138569099 0.00001
NM_020708.5(SLC12A5):c.969C>T (p.Ser323=) rs1186052510 0.00001
NM_020708.5(SLC12A5):c.974G>A (p.Arg325His) rs751583991 0.00001
NM_020708.5(SLC12A5):c.97G>A (p.Asp33Asn) rs534826231 0.00001
NM_020708.5(SLC12A5):c.981C>G (p.Leu327=) rs1246713640 0.00001
NM_020708.5(SLC12A5):c.983A>G (p.Asn328Ser) rs2084546554 0.00001
NM_020708.5(SLC12A5):c.984C>T (p.Asn328=) rs754526924 0.00001
NM_020708.5(SLC12A5):c.985G>A (p.Ala329Thr) rs767192319 0.00001
NC_000020.11:g.(?_46021746)_(46057625_?)del
NC_000020.11:g.(?_46045858)_(46046456_?)del
NM_020708.5(SLC12A5):c.1007C>G (p.Thr336Ser)
NM_020708.5(SLC12A5):c.1011A>G (p.Arg337=)
NM_020708.5(SLC12A5):c.1020C>T (p.Val340=) rs775553439
NM_020708.5(SLC12A5):c.1024G>A (p.Glu342Lys) rs2084547129
NM_020708.5(SLC12A5):c.1033G>A (p.Gly345Ser) rs909559043
NM_020708.5(SLC12A5):c.1050C>A (p.Ala350=) rs1568861790
NM_020708.5(SLC12A5):c.1056C>T (p.Gly352=) rs768786111
NM_020708.5(SLC12A5):c.1060A>G (p.Ile354Val) rs961067707
NM_020708.5(SLC12A5):c.1066+14C>T rs1324741256
NM_020708.5(SLC12A5):c.1066+5G>T
NM_020708.5(SLC12A5):c.1066+6C>T
NM_020708.5(SLC12A5):c.1066+7G>A
NM_020708.5(SLC12A5):c.1067-12G>A
NM_020708.5(SLC12A5):c.1067-12G>T
NM_020708.5(SLC12A5):c.1067-14_1067-13del rs1191018482
NM_020708.5(SLC12A5):c.1067-18C>T
NM_020708.5(SLC12A5):c.1067-20A>C rs2145491341
NM_020708.5(SLC12A5):c.1067-4A>G
NM_020708.5(SLC12A5):c.1074C>T (p.Leu358=)
NM_020708.5(SLC12A5):c.1084T>A (p.Tyr362Asn)
NM_020708.5(SLC12A5):c.1089G>T (p.Leu363=)
NM_020708.5(SLC12A5):c.108G>C (p.Lys36Asn) rs970629633
NM_020708.5(SLC12A5):c.1093A>G (p.Lys365Glu) rs1747278164
NM_020708.5(SLC12A5):c.1098C>G (p.Gly366=) rs770170831
NM_020708.5(SLC12A5):c.1098C>T (p.Gly366=) rs770170831
NM_020708.5(SLC12A5):c.109G>C (p.Gly37Arg)
NM_020708.5(SLC12A5):c.1112G>A (p.Arg371Lys) rs2145491395
NM_020708.5(SLC12A5):c.1119G>A (p.Gly373=) rs986597650
NM_020708.5(SLC12A5):c.1124C>T (p.Thr375Ile) rs772033105
NM_020708.5(SLC12A5):c.1132G>A (p.Gly378Ser) rs2080922672
NM_020708.5(SLC12A5):c.1144G>A (p.Gly382Ser) rs1450320682
NM_020708.5(SLC12A5):c.1145G>A (p.Gly382Asp)
NM_020708.5(SLC12A5):c.1148C>A (p.Thr383Asn) rs201727005
NM_020708.5(SLC12A5):c.1159A>G (p.Met387Val)
NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) rs1600590580
NM_020708.5(SLC12A5):c.1161G>A (p.Met387Ile) rs771205120
NM_020708.5(SLC12A5):c.1164C>T (p.Asp388=)
NM_020708.5(SLC12A5):c.1168C>G (p.Pro390Ala)
NM_020708.5(SLC12A5):c.1174G>A (p.Val392Ile) rs2145491521
NM_020708.5(SLC12A5):c.1194C>T (p.Ser398=)
NM_020708.5(SLC12A5):c.1196A>G (p.Tyr399Cys)
NM_020708.5(SLC12A5):c.1204C>T (p.Leu402=) rs1600597195
NM_020708.5(SLC12A5):c.1237+11G>T
NM_020708.5(SLC12A5):c.1237+13_1237+20dup
NM_020708.5(SLC12A5):c.1238-10T>C
NM_020708.5(SLC12A5):c.1238-4G>A
NM_020708.5(SLC12A5):c.1238-9G>A
NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) rs368484023
NM_020708.5(SLC12A5):c.124G>T (p.Gly42Cys) rs2145481710
NM_020708.5(SLC12A5):c.1259G>A (p.Arg420His) rs757586510
NM_020708.5(SLC12A5):c.1260C>A (p.Arg420=) rs1210104106
NM_020708.5(SLC12A5):c.1287del (p.Lys429fs)
NM_020708.5(SLC12A5):c.1291A>G (p.Ile431Val)
NM_020708.5(SLC12A5):c.1301G>A (p.Gly434Asp) rs2084568578
NM_020708.5(SLC12A5):c.1334T>C (p.Val445Ala) rs2145492118
NM_020708.5(SLC12A5):c.1336+18G>A
NM_020708.5(SLC12A5):c.1337-2A>G
NM_020708.5(SLC12A5):c.1337-9C>T
NM_020708.5(SLC12A5):c.1363G>A (p.Ala455Thr)
NM_020708.5(SLC12A5):c.1374G>A (p.Glu458=) rs145624716
NM_020708.5(SLC12A5):c.1374G>C (p.Glu458Asp)
NM_020708.5(SLC12A5):c.1383C>A (p.Val461=)
NM_020708.5(SLC12A5):c.1386G>A (p.Leu462=)
NM_020708.5(SLC12A5):c.1387C>G (p.Arg463Gly)
NM_020708.5(SLC12A5):c.1387C>T (p.Arg463Trp) rs769265263
NM_020708.5(SLC12A5):c.1394+12G>A
NM_020708.5(SLC12A5):c.1394+16T>G
NM_020708.5(SLC12A5):c.1395-12A>T
NM_020708.5(SLC12A5):c.1395-6T>C
NM_020708.5(SLC12A5):c.1423G>A (p.Val475Met) rs1304092442
NM_020708.5(SLC12A5):c.1435C>T (p.Leu479=)
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro) rs2084581427
NM_020708.5(SLC12A5):c.1465A>T (p.Ile489Phe) rs2084581563
NM_020708.5(SLC12A5):c.147+14G>A
NM_020708.5(SLC12A5):c.147+17G>A
NM_020708.5(SLC12A5):c.147+1G>A
NM_020708.5(SLC12A5):c.147+8G>T
NM_020708.5(SLC12A5):c.147+9C>T rs2145481731
NM_020708.5(SLC12A5):c.147G>A (p.Glu49=) rs2084484862
NM_020708.5(SLC12A5):c.148-10C>T
NM_020708.5(SLC12A5):c.148-13C>T
NM_020708.5(SLC12A5):c.148-4A>G
NM_020708.5(SLC12A5):c.148-8C>T rs1413620669
NM_020708.5(SLC12A5):c.1488T>C (p.Cys496=) rs1600598684
NM_020708.5(SLC12A5):c.1492dup (p.Ala498fs) rs2145493702
NM_020708.5(SLC12A5):c.1499T>C (p.Leu500Pro)
NM_020708.5(SLC12A5):c.1500G>A (p.Leu500=) rs2145493717
NM_020708.5(SLC12A5):c.1500G>T (p.Leu500=)
NM_020708.5(SLC12A5):c.1523G>A (p.Arg508His) rs2084582477
NM_020708.5(SLC12A5):c.1530G>C (p.Leu510=) rs1600598728
NM_020708.5(SLC12A5):c.1536C>G (p.Ala512=) rs2145493756
NM_020708.5(SLC12A5):c.1542G>A (p.Ser514=) rs771067022
NM_020708.5(SLC12A5):c.1564C>T (p.Leu522=) rs1600598775
NM_020708.5(SLC12A5):c.1566G>A (p.Leu522=) rs759768562
NM_020708.5(SLC12A5):c.1569+15A>G
NM_020708.5(SLC12A5):c.1569+18A>G
NM_020708.5(SLC12A5):c.1569+19C>G
NM_020708.5(SLC12A5):c.1569+9G>A rs1331325326
NM_020708.5(SLC12A5):c.1570-11T>C rs1276719019
NM_020708.5(SLC12A5):c.1570-12C>A
NM_020708.5(SLC12A5):c.1570-6C>T rs2084590595
NM_020708.5(SLC12A5):c.1581T>C (p.His527=) rs923053406
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.1593T>C (p.Asn531=)
NM_020708.5(SLC12A5):c.1596A>G (p.Gly532=) rs2145494688
NM_020708.5(SLC12A5):c.1600C>G (p.Pro534Ala)
NM_020708.5(SLC12A5):c.1602G>A (p.Pro534=) rs761507003
NM_020708.5(SLC12A5):c.1613T>C (p.Leu538Pro) rs1555865050
NM_020708.5(SLC12A5):c.1621A>C (p.Thr541Pro)
NM_020708.5(SLC12A5):c.1658C>T (p.Ser553Phe) rs2145494762
NM_020708.5(SLC12A5):c.1667A>G (p.Glu556Gly)
NM_020708.5(SLC12A5):c.1676C>G (p.Pro559Arg)
NM_020708.5(SLC12A5):c.1688+14T>C
NM_020708.5(SLC12A5):c.1688T>C (p.Met563Thr)
NM_020708.5(SLC12A5):c.1689-16C>T
NM_020708.5(SLC12A5):c.1689-17G>A rs750984148
NM_020708.5(SLC12A5):c.1689-7G>A rs2084595386
NM_020708.5(SLC12A5):c.1689-9G>A
NM_020708.5(SLC12A5):c.1702T>C (p.Cys568Arg) rs2145495282
NM_020708.5(SLC12A5):c.171G>A (p.Met57Ile)
NM_020708.5(SLC12A5):c.1739C>T (p.Thr580Met)
NM_020708.5(SLC12A5):c.1757A>G (p.Asn586Ser) rs749064755
NM_020708.5(SLC12A5):c.1767A>G (p.Pro589=)
NM_020708.5(SLC12A5):c.1768C>T (p.Arg590Cys) rs2084595756
NM_020708.5(SLC12A5):c.1775G>A (p.Arg592Gln) rs368661669
NM_020708.5(SLC12A5):c.1778A>T (p.Tyr593Phe)
NM_020708.5(SLC12A5):c.1785C>T (p.His595=) rs1364638744
NM_020708.5(SLC12A5):c.1787+16C>T
NM_020708.5(SLC12A5):c.1787+8C>T rs775097455
NM_020708.5(SLC12A5):c.1787G>A (p.Trp596Ter)
NM_020708.5(SLC12A5):c.1788-12C>A
NM_020708.5(SLC12A5):c.1788-17C>A
NM_020708.5(SLC12A5):c.1788-6G>T
NM_020708.5(SLC12A5):c.1788-9C>G
NM_020708.5(SLC12A5):c.17C>T (p.Thr6Met) rs538727547
NM_020708.5(SLC12A5):c.1806C>A (p.Gly602=) rs140595322
NM_020708.5(SLC12A5):c.1806C>T (p.Gly602=)
NM_020708.5(SLC12A5):c.1811G>T (p.Ser604Ile)
NM_020708.5(SLC12A5):c.1824C>T (p.Ala608=) rs959050230
NM_020708.5(SLC12A5):c.1828A>G (p.Met610Val)
NM_020708.5(SLC12A5):c.1834A>G (p.Ile612Val) rs1600600642
NM_020708.5(SLC12A5):c.1845G>A (p.Trp615Ter) rs2145496676
NM_020708.5(SLC12A5):c.1850A>G (p.Tyr617Cys) rs1388235037
NM_020708.5(SLC12A5):c.1854A>G (p.Ala618=)
NM_020708.5(SLC12A5):c.1888A>T (p.Lys630Ter) rs2145496726
NM_020708.5(SLC12A5):c.1890G>A (p.Lys630=)
NM_020708.5(SLC12A5):c.1904G>A (p.Arg635His) rs746932137
NM_020708.5(SLC12A5):c.1907+5G>A rs2084607114
NM_020708.5(SLC12A5):c.1908-10C>T
NM_020708.5(SLC12A5):c.1908-11C>T
NM_020708.5(SLC12A5):c.1908-15C>T
NM_020708.5(SLC12A5):c.1908-9G>C
NM_020708.5(SLC12A5):c.1921T>C (p.Trp641Arg) rs2084611541
NM_020708.5(SLC12A5):c.192C>A (p.Gly64=) rs771247445
NM_020708.5(SLC12A5):c.1936C>G (p.Arg646Gly) rs771263913
NM_020708.5(SLC12A5):c.1936C>T (p.Arg646Ter)
NM_020708.5(SLC12A5):c.1960C>A (p.Arg654Ser) rs200020521
NM_020708.5(SLC12A5):c.1960C>T (p.Arg654Cys) rs200020521
NM_020708.5(SLC12A5):c.197C>T (p.Ala66Val) rs2145482188
NM_020708.5(SLC12A5):c.1985_1987dup (p.Glu662dup) rs2145497390
NM_020708.5(SLC12A5):c.1989G>A (p.Gly663=) rs373648545
NM_020708.5(SLC12A5):c.1998C>T (p.His666=)
NM_020708.5(SLC12A5):c.2012+18G>A
NM_020708.5(SLC12A5):c.2012+18G>T
NM_020708.5(SLC12A5):c.2012+1G>T rs2145497450
NM_020708.5(SLC12A5):c.2013-15_2013-14del
NM_020708.5(SLC12A5):c.2020C>T (p.Leu674=) rs1271881068
NM_020708.5(SLC12A5):c.2022G>T (p.Leu674=)
NM_020708.5(SLC12A5):c.2059G>T (p.Val687Leu) rs1175869873
NM_020708.5(SLC12A5):c.2067C>T (p.Pro689=) rs1383910539
NM_020708.5(SLC12A5):c.2073G>A (p.Leu691=) rs778428073
NM_020708.5(SLC12A5):c.2074C>T (p.Leu692Phe) rs745527673
NM_020708.5(SLC12A5):c.207C>T (p.Thr69=) rs2145482217
NM_020708.5(SLC12A5):c.2082G>A (p.Leu694=) rs2145499570
NM_020708.5(SLC12A5):c.2087C>T (p.Ser696Phe) rs2145499586
NM_020708.5(SLC12A5):c.2092C>A (p.Leu698Met) rs1325111537
NM_020708.5(SLC12A5):c.2105A>G (p.Lys702Arg) rs1555866427
NM_020708.5(SLC12A5):c.2110C>T (p.Leu704=) rs1600602344
NM_020708.5(SLC12A5):c.2119G>C (p.Val707Leu) rs1199339536
NM_020708.5(SLC12A5):c.2130C>A (p.Val710=) rs2145499678
NM_020708.5(SLC12A5):c.2131C>T (p.Leu711Phe)
NM_020708.5(SLC12A5):c.213G>T (p.Leu71=)
NM_020708.5(SLC12A5):c.2142C>A (p.Thr714=) rs1026017018
NM_020708.5(SLC12A5):c.2142C>G (p.Thr714=)
NM_020708.5(SLC12A5):c.2155C>A (p.His719Asn) rs2084631866
NM_020708.5(SLC12A5):c.2170C>A (p.Arg724=) rs532191036
NM_020708.5(SLC12A5):c.2181+3G>A
NM_020708.5(SLC12A5):c.2181+5_2181+6delinsAA rs2145499747
NM_020708.5(SLC12A5):c.2181+9A>C
NM_020708.5(SLC12A5):c.2182-10C>G
NM_020708.5(SLC12A5):c.2182-11C>T rs369990409
NM_020708.5(SLC12A5):c.2182-4C>T
NM_020708.5(SLC12A5):c.2182-5C>G
NM_020708.5(SLC12A5):c.2185A>T (p.Ile729Phe) rs1479711008
NM_020708.5(SLC12A5):c.219G>A (p.Gln73=)
NM_020708.5(SLC12A5):c.21C>A (p.Asp7Glu) rs1411688611
NM_020708.5(SLC12A5):c.2202G>A (p.Glu734=) rs2145501982
NM_020708.5(SLC12A5):c.2211G>A (p.Lys737=) rs1181584422
NM_020708.5(SLC12A5):c.2212G>A (p.Val738Met)
NM_020708.5(SLC12A5):c.2248T>A (p.Leu750Met)
NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) rs2084648529
NM_020708.5(SLC12A5):c.225T>C (p.Ser75=)
NM_020708.5(SLC12A5):c.2283G>A (p.Gly761=) rs2084648859
NM_020708.5(SLC12A5):c.2286C>A (p.Gly762=)
NM_020708.5(SLC12A5):c.2286C>T (p.Gly762=) rs766120516
NM_020708.5(SLC12A5):c.2292G>A (p.Gly764=) rs79522550
NM_020708.5(SLC12A5):c.2297T>G (p.Leu766Arg)
NM_020708.5(SLC12A5):c.2297del (p.Leu766fs)
NM_020708.5(SLC12A5):c.2301G>A (p.Gln767=)
NM_020708.5(SLC12A5):c.2301_2302del (p.His768fs) rs2145502127
NM_020708.5(SLC12A5):c.2313G>A (p.Val771=)
NM_020708.5(SLC12A5):c.231G>A (p.Glu77=)
NM_020708.5(SLC12A5):c.2331C>T (p.Arg777=)
NM_020708.5(SLC12A5):c.2339G>A (p.Arg780His)
NM_020708.5(SLC12A5):c.2350G>T (p.Asp784Tyr) rs2084649437
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met) rs901985864
NM_020708.5(SLC12A5):c.2375T>C (p.Ile792Thr) rs769820337
NM_020708.5(SLC12A5):c.2377+11T>C
NM_020708.5(SLC12A5):c.2377+13G>A
NM_020708.5(SLC12A5):c.2377+15G>A
NM_020708.5(SLC12A5):c.2377+23_2377+45del
NM_020708.5(SLC12A5):c.2377+9_2377+11del rs2145502204
NM_020708.5(SLC12A5):c.2378-13T>G
NM_020708.5(SLC12A5):c.2378-15C>T
NM_020708.5(SLC12A5):c.2385C>A (p.Val795=)
NM_020708.5(SLC12A5):c.2402G>A (p.Gly801Asp) rs1555867242
NM_020708.5(SLC12A5):c.2407T>G (p.Leu803Val)
NM_020708.5(SLC12A5):c.242C>T (p.Ala81Val) rs76320421
NM_020708.5(SLC12A5):c.2433T>C (p.Val811=)
NM_020708.5(SLC12A5):c.2443C>T (p.Pro815Ser) rs2084659527
NM_020708.5(SLC12A5):c.2448G>T (p.Gly816=)
NM_020708.5(SLC12A5):c.2452C>A (p.Pro818Thr)
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020708.5(SLC12A5):c.2478C>T (p.Ile826=)
NM_020708.5(SLC12A5):c.2482G>A (p.Val828Ile)
NM_020708.5(SLC12A5):c.2490G>A (p.Trp830Ter) rs2145503665
NM_020708.5(SLC12A5):c.2493T>A (p.Ile831=) rs2084660049
NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) rs2084424489
NM_020708.5(SLC12A5):c.2502T>C (p.Asp834=) rs2145503678
NM_020708.5(SLC12A5):c.2511G>T (p.Met837Ile) rs1251560492
NM_020708.5(SLC12A5):c.2514C>T (p.Leu838=) rs768958786
NM_020708.5(SLC12A5):c.2519del (p.Leu840fs) rs2145503701
NM_020708.5(SLC12A5):c.252T>C (p.Asn84=)
NM_020708.5(SLC12A5):c.2537G>A (p.Arg846Gln)
NM_020708.5(SLC12A5):c.2547+12G>A rs1475116544
NM_020708.5(SLC12A5):c.2547+8G>T rs1555867366
NM_020708.5(SLC12A5):c.2547G>A (p.Lys849=) rs1271576929
NM_020708.5(SLC12A5):c.2548-5_2548-4delinsCT rs1600604943
NM_020708.5(SLC12A5):c.2548-8G>T
NM_020708.5(SLC12A5):c.256G>A (p.Gly86Ser)
NM_020708.5(SLC12A5):c.2577C>T (p.Phe859=) rs2145504264
NM_020708.5(SLC12A5):c.25G>A (p.Glu9Lys)
NM_020708.5(SLC12A5):c.2628C>T (p.Thr876=)
NM_020708.5(SLC12A5):c.2639A>G (p.Tyr880Cys) rs1270290272
NM_020708.5(SLC12A5):c.2655T>C (p.Thr885=)
NM_020708.5(SLC12A5):c.2657C>T (p.Ala886Val)
NM_020708.5(SLC12A5):c.2664C>G (p.Val888=) rs1053574223
NM_020708.5(SLC12A5):c.2664C>T (p.Val888=) rs1053574223
NM_020708.5(SLC12A5):c.2665G>A (p.Glu889Lys) rs565709821
NM_020708.5(SLC12A5):c.266del (p.Lys89fs) rs2084489672
NM_020708.5(SLC12A5):c.2672T>C (p.Val891Ala)
NM_020708.5(SLC12A5):c.2679+13G>A
NM_020708.5(SLC12A5):c.2679+19C>A
NM_020708.5(SLC12A5):c.2679+8C>A rs771536557
NM_020708.5(SLC12A5):c.2680-12G>C
NM_020708.5(SLC12A5):c.2680-20C>T
NM_020708.5(SLC12A5):c.2680-5C>T
NM_020708.5(SLC12A5):c.2685G>C (p.Glu895Asp) rs1568868408
NM_020708.5(SLC12A5):c.2706C>T (p.Thr902=)
NM_020708.5(SLC12A5):c.2708A>T (p.Tyr903Phe) rs2145505900
NM_020708.5(SLC12A5):c.2708_2709del (p.Thr902_Tyr903insTer)
NM_020708.5(SLC12A5):c.2719T>C (p.Leu907=)
NM_020708.5(SLC12A5):c.2721G>A (p.Leu907=)
NM_020708.5(SLC12A5):c.2750A>G (p.Lys917Arg) rs2084677325
NM_020708.5(SLC12A5):c.2754G>C (p.Gln918His) rs1417761332
NM_020708.5(SLC12A5):c.275T>C (p.Val92Ala)
NM_020708.5(SLC12A5):c.2760T>C (p.His920=) rs1600605834
NM_020708.5(SLC12A5):c.2767A>G (p.Lys923Glu) rs2084677438
NM_020708.5(SLC12A5):c.276G>A (p.Val92=)
NM_020708.5(SLC12A5):c.2777G>A (p.Arg926Gln)
NM_020708.5(SLC12A5):c.2782C>A (p.Arg928=) rs751455156
NM_020708.5(SLC12A5):c.2787+10C>T
NM_020708.5(SLC12A5):c.2787+11C>A rs1483499586
NM_020708.5(SLC12A5):c.2787+12C>G rs2084677788
NM_020708.5(SLC12A5):c.2787+17T>A rs2145506047
NM_020708.5(SLC12A5):c.2787+6G>A rs2084677694
NM_020708.5(SLC12A5):c.2788-14A>G
NM_020708.5(SLC12A5):c.2788-8C>T rs2145507462
NM_020708.5(SLC12A5):c.279+8C>A rs2145482332
NM_020708.5(SLC12A5):c.2799C>T (p.Ile933=) rs2145507474
NM_020708.5(SLC12A5):c.280-16C>A
NM_020708.5(SLC12A5):c.280-18T>C rs953607328
NM_020708.5(SLC12A5):c.280-19A>T rs2145482712
NM_020708.5(SLC12A5):c.280-20G>C rs2145482709
NM_020708.5(SLC12A5):c.280-8C>G
NM_020708.5(SLC12A5):c.2802A>C (p.Thr934=)
NM_020708.5(SLC12A5):c.2806G>A (p.Glu936Lys) rs2084689806
NM_020708.5(SLC12A5):c.2807A>T (p.Glu936Val) rs2145507497
NM_020708.5(SLC12A5):c.2811A>T (p.Ser937=) rs1296196636
NM_020708.5(SLC12A5):c.2812C>A (p.Arg938=)
NM_020708.5(SLC12A5):c.281C>A (p.Ala94Asp) rs2084493069
NM_020708.5(SLC12A5):c.2831A>C (p.Lys944Thr)
NM_020708.5(SLC12A5):c.2840C>A (p.Ala947Asp) rs199934904
NM_020708.5(SLC12A5):c.2847G>A (p.Thr949=)
NM_020708.5(SLC12A5):c.2856C>T (p.Arg952=) rs2084690897
NM_020708.5(SLC12A5):c.2862C>A (p.Asn954Lys) rs754601939
NM_020708.5(SLC12A5):c.2863G>A (p.Val955Ile)
NM_020708.5(SLC12A5):c.2868A>G (p.Pro956=)
NM_020708.5(SLC12A5):c.286C>A (p.Arg96Ser) rs145700012
NM_020708.5(SLC12A5):c.2872G>A (p.Glu958Lys)
NM_020708.5(SLC12A5):c.287G>T (p.Arg96Leu) rs756873079
NM_020708.5(SLC12A5):c.288C>T (p.Arg96=)
NM_020708.5(SLC12A5):c.2890G>A (p.Glu964Lys)
NM_020708.5(SLC12A5):c.2894_2898del (p.Glu965fs) rs2145507682
NM_020708.5(SLC12A5):c.289A>T (p.Met97Leu)
NM_020708.5(SLC12A5):c.2907G>A (p.Glu969=)
NM_020708.5(SLC12A5):c.2910+16G>T rs2145507733
NM_020708.5(SLC12A5):c.2910+19T>C
NM_020708.5(SLC12A5):c.2910+9C>T
NM_020708.5(SLC12A5):c.2910+9del rs773293457
NM_020708.5(SLC12A5):c.2910G>A (p.Glu970=)
NM_020708.5(SLC12A5):c.2911-10C>T
NM_020708.5(SLC12A5):c.2911-3C>T rs2084693738
NM_020708.5(SLC12A5):c.2911-5C>T
NM_020708.5(SLC12A5):c.2911-7C>A
NM_020708.5(SLC12A5):c.2925C>A (p.His975Gln) rs778476586
NM_020708.5(SLC12A5):c.2925C>T (p.His975=) rs778476586
NM_020708.5(SLC12A5):c.2926G>A (p.Asp976Asn)
NM_020708.5(SLC12A5):c.2938C>A (p.Pro980Thr) rs2145507934
NM_020708.5(SLC12A5):c.2953A>G (p.Ser985Gly) rs2145507962
NM_020708.5(SLC12A5):c.2958C>T (p.Ser986=)
NM_020708.5(SLC12A5):c.2960C>T (p.Pro987Leu)
NM_020708.5(SLC12A5):c.2963C>T (p.Ser988Phe) rs1600607044
NM_020708.5(SLC12A5):c.2985G>A (p.Gly995=) rs2145508040
NM_020708.5(SLC12A5):c.2989G>A (p.Gly997Arg) rs2084695025
NM_020708.5(SLC12A5):c.298T>A (p.Phe100Ile) rs1396711146
NM_020708.5(SLC12A5):c.2991G>A (p.Gly997=)
NM_020708.5(SLC12A5):c.3001C>T (p.Pro1001Ser) rs2084695249
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu) rs749426883
NM_020708.5(SLC12A5):c.3009G>A (p.Lys1003=)
NM_020708.5(SLC12A5):c.3010G>A (p.Val1004Met) rs2145508098
NM_020708.5(SLC12A5):c.3015T>C (p.His1005=) rs2145508104
NM_020708.5(SLC12A5):c.3027C>A (p.Thr1009=)
NM_020708.5(SLC12A5):c.3027C>G (p.Thr1009=) rs201194560
NM_020708.5(SLC12A5):c.3028A>G (p.Lys1010Glu) rs2084695663
NM_020708.5(SLC12A5):c.3031G>A (p.Asp1011Asn)
NM_020708.5(SLC12A5):c.3033C>G (p.Asp1011Glu) rs2084695742
NM_020708.5(SLC12A5):c.3040G>A (p.Val1014Met) rs2145508136
NM_020708.5(SLC12A5):c.304G>A (p.Gly102Ser) rs2145482789
NM_020708.5(SLC12A5):c.3051G>A (p.Lys1017=)
NM_020708.5(SLC12A5):c.3072C>G (p.Val1024=)
NM_020708.5(SLC12A5):c.3074C>T (p.Ser1025Phe)
NM_020708.5(SLC12A5):c.3080A>G (p.Glu1027Gly)
NM_020708.5(SLC12A5):c.3091G>C (p.Asp1031His) rs2145508232
NM_020708.5(SLC12A5):c.3096C>A (p.Phe1032Leu)
NM_020708.5(SLC12A5):c.309G>A (p.Val103=) rs748333271
NM_020708.5(SLC12A5):c.3101G>A (p.Ser1034Asn) rs750612388
NM_020708.5(SLC12A5):c.3105G>T (p.Met1035Ile) rs375422132
NM_020708.5(SLC12A5):c.3110+10T>C rs2145508277
NM_020708.5(SLC12A5):c.3110+14G>A
NM_020708.5(SLC12A5):c.3110+1G>A
NM_020708.5(SLC12A5):c.3110+5G>A rs748005684
NM_020708.5(SLC12A5):c.3110C>T (p.Pro1037Leu) rs1304640833
NM_020708.5(SLC12A5):c.3125+20T>C
NM_020708.5(SLC12A5):c.3125+7G>A
NM_020708.5(SLC12A5):c.3126-14_3126-12del
NM_020708.5(SLC12A5):c.3126-17C>T
NM_020708.5(SLC12A5):c.3126-19C>T rs766692928
NM_020708.5(SLC12A5):c.3126-5del
NM_020708.5(SLC12A5):c.3156G>A (p.Thr1052=) rs200558731
NM_020708.5(SLC12A5):c.3159_3180del (p.Ala1053_Val1054insTer)
NM_020708.5(SLC12A5):c.3163C>A (p.Arg1055=) rs2084704107
NM_020708.5(SLC12A5):c.3173_3175del (p.Glu1058del) rs2084704275
NM_020708.5(SLC12A5):c.3178A>G (p.Ile1060Val) rs770196677
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu) rs2084493674
NM_020708.5(SLC12A5):c.3180C>T (p.Ile1060=)
NM_020708.5(SLC12A5):c.318G>T (p.Pro106=)
NM_020708.5(SLC12A5):c.3195G>C (p.Arg1065=) rs2145509221
NM_020708.5(SLC12A5):c.3199G>A (p.Ala1067Thr) rs1600607907
NM_020708.5(SLC12A5):c.3200C>G (p.Ala1067Gly) rs2084704738
NM_020708.5(SLC12A5):c.3218A>G (p.Asn1073Ser) rs1402047500
NM_020708.5(SLC12A5):c.3222G>A (p.Met1074Ile) rs2084704882
NM_020708.5(SLC12A5):c.3240C>T (p.Asn1080=) rs912083023
NM_020708.5(SLC12A5):c.3242G>A (p.Arg1081His) rs376095009
NM_020708.5(SLC12A5):c.3243C>T (p.Arg1081=)
NM_020708.5(SLC12A5):c.3250G>A (p.Asp1084Asn) rs2084705283
NM_020708.5(SLC12A5):c.326A>G (p.Gln109Arg) rs2145482810
NM_020708.5(SLC12A5):c.33C>A (p.Gly11=) rs2145473814
NM_020708.5(SLC12A5):c.355C>T (p.Arg119Trp) rs3848724
NM_020708.5(SLC12A5):c.363C>G (p.Thr121=)
NM_020708.5(SLC12A5):c.369G>A (p.Val123=) rs2084494146
NM_020708.5(SLC12A5):c.377T>C (p.Ile126Thr) rs758760799
NM_020708.5(SLC12A5):c.39G>C (p.Gly13=) rs2145473827
NM_020708.5(SLC12A5):c.403A>G (p.Met135Val) rs2145482911
NM_020708.5(SLC12A5):c.411C>A (p.Phe137Leu) rs2145482914
NM_020708.5(SLC12A5):c.413T>G (p.Ile138Ser) rs2145482918
NM_020708.5(SLC12A5):c.418T>C (p.Cys140Arg) rs2145482936
NM_020708.5(SLC12A5):c.426+11C>A
NM_020708.5(SLC12A5):c.426+12C>A
NM_020708.5(SLC12A5):c.426+12C>G
NM_020708.5(SLC12A5):c.426+13C>G
NM_020708.5(SLC12A5):c.426+16C>A
NM_020708.5(SLC12A5):c.427-3C>T
NM_020708.5(SLC12A5):c.427-6T>C
NM_020708.5(SLC12A5):c.427-7C>G rs2145483872
NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met) rs764963565
NM_020708.5(SLC12A5):c.429G>A (p.Thr143=) rs749462257
NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) rs2084424722
NM_020708.5(SLC12A5):c.435C>T (p.Leu145=) rs1600591942
NM_020708.5(SLC12A5):c.437C>T (p.Thr146Met) rs2084502132
NM_020708.5(SLC12A5):c.447C>T (p.Ser149=)
NM_020708.5(SLC12A5):c.457A>T (p.Ile153Phe)
NM_020708.5(SLC12A5):c.45C>T (p.Ala15=)
NM_020708.5(SLC12A5):c.464C>T (p.Thr155Met) rs2084502373
NM_020708.5(SLC12A5):c.470G>A (p.Gly157Asp) rs2084502438
NM_020708.5(SLC12A5):c.477G>T (p.Val159=)
NM_020708.5(SLC12A5):c.482-6C>T
NM_020708.5(SLC12A5):c.482-8C>T
NM_020708.5(SLC12A5):c.48C>T (p.Asn16=)
NM_020708.5(SLC12A5):c.50C>G (p.Pro17Arg)
NM_020708.5(SLC12A5):c.519C>A (p.Gly173=) rs1274799788
NM_020708.5(SLC12A5):c.52+13C>G
NM_020708.5(SLC12A5):c.52+15G>A
NM_020708.5(SLC12A5):c.52+15G>C
NM_020708.5(SLC12A5):c.52+19del rs1462751577
NM_020708.5(SLC12A5):c.52+21_52+35del rs141158582
NM_020708.5(SLC12A5):c.52+9T>C
NM_020708.5(SLC12A5):c.529G>C (p.Gly177Arg)
NM_020708.5(SLC12A5):c.53-2A>C
NM_020708.5(SLC12A5):c.53-2A>G rs2084483775
NM_020708.5(SLC12A5):c.53-9C>A rs2145481592
NM_020708.5(SLC12A5):c.531G>C (p.Gly177=) rs1600592327
NM_020708.5(SLC12A5):c.531_532insT (p.Gly178fs) rs2145484584
NM_020708.5(SLC12A5):c.53G>A (p.Gly18Asp)
NM_020708.5(SLC12A5):c.553T>C (p.Tyr185His)
NM_020708.5(SLC12A5):c.563C>A (p.Thr188Asn) rs2145484631
NM_020708.5(SLC12A5):c.575G>C (p.Gly192Ala)
NM_020708.5(SLC12A5):c.587T>A (p.Ile196Asn) rs2145484652
NM_020708.5(SLC12A5):c.601G>A (p.Glu201Lys) rs868598822
NM_020708.5(SLC12A5):c.612+13GAG[2] rs777279837
NM_020708.5(SLC12A5):c.613-14C>T
NM_020708.5(SLC12A5):c.613-18C>T rs965878928
NM_020708.5(SLC12A5):c.613-5C>T
NM_020708.5(SLC12A5):c.613G>A (p.Ala205Thr) rs2084534894
NM_020708.5(SLC12A5):c.631A>G (p.Met211Val) rs2145487863
NM_020708.5(SLC12A5):c.636C>T (p.Ala212=)
NM_020708.5(SLC12A5):c.645G>A (p.Lys215=)
NM_020708.5(SLC12A5):c.64C>A (p.Pro22Thr) rs2084483871
NM_020708.5(SLC12A5):c.655G>A (p.Ala219Thr)
NM_020708.5(SLC12A5):c.669A>G (p.Ala223=) rs932821826
NM_020708.5(SLC12A5):c.675C>T (p.Ala225=)
NM_020708.5(SLC12A5):c.684C>A (p.Asn228Lys) rs2084535559
NM_020708.5(SLC12A5):c.688A>G (p.Met230Val) rs2145487913
NM_020708.5(SLC12A5):c.689T>G (p.Met230Arg) rs2084535623
NM_020708.5(SLC12A5):c.694G>A (p.Val232Ile) rs1555863136
NM_020708.5(SLC12A5):c.6A>G (p.Leu2=)
NM_020708.5(SLC12A5):c.710_711del (p.Val237fs) rs1555863145
NM_020708.5(SLC12A5):c.714C>T (p.Leu238=)
NM_020708.5(SLC12A5):c.723G>A (p.Met241Ile) rs766598411
NM_020708.5(SLC12A5):c.732G>T (p.Val244=) rs2145487973
NM_020708.5(SLC12A5):c.749A>C (p.Lys250Thr)
NM_020708.5(SLC12A5):c.750G>A (p.Lys250=)
NM_020708.5(SLC12A5):c.750G>T (p.Lys250Asn) rs777601251
NM_020708.5(SLC12A5):c.756C>T (p.Val252=) rs1206373570
NM_020708.5(SLC12A5):c.75C>T (p.Ser25=)
NM_020708.5(SLC12A5):c.772G>T (p.Val258Phe)
NM_020708.5(SLC12A5):c.802C>T (p.Leu268=)
NM_020708.5(SLC12A5):c.837C>T (p.Phe279=)
NM_020708.5(SLC12A5):c.848A>G (p.Asn283Ser)
NM_020708.5(SLC12A5):c.854+13G>T
NM_020708.5(SLC12A5):c.854+1G>A
NM_020708.5(SLC12A5):c.855-18C>T
NM_020708.5(SLC12A5):c.855-6C>T rs774297761
NM_020708.5(SLC12A5):c.855-9T>A rs2145488945
NM_020708.5(SLC12A5):c.865C>T (p.Leu289=) rs2145488960
NM_020708.5(SLC12A5):c.866T>G (p.Leu289Arg) rs1600595445
NM_020708.5(SLC12A5):c.86T>C (p.Ile29Thr) rs2084484090
NM_020708.5(SLC12A5):c.879G>A (p.Thr293=) rs138406290
NM_020708.5(SLC12A5):c.893G>T (p.Gly298Val) rs1317503439
NM_020708.5(SLC12A5):c.900T>G (p.Asp300Glu) rs765877175
NM_020708.5(SLC12A5):c.903C>T (p.Val301=) rs2145489026
NM_020708.5(SLC12A5):c.909C>G (p.Ala303=)
NM_020708.5(SLC12A5):c.927A>G (p.Gly309=) rs528584481
NM_020708.5(SLC12A5):c.937G>T (p.Val313Leu) rs138569099
NM_020708.5(SLC12A5):c.939G>A (p.Val313=) rs149300952
NM_020708.5(SLC12A5):c.941C>T (p.Thr314Ile)
NM_020708.5(SLC12A5):c.944C>T (p.Thr315Ile) rs2145489127
NM_020708.5(SLC12A5):c.946C>A (p.Arg316=) rs373725781
NM_020708.5(SLC12A5):c.949C>T (p.Leu317=) rs775678070
NM_020708.5(SLC12A5):c.951A>G (p.Leu317=)
NM_020708.5(SLC12A5):c.962del (p.Phe321fs)
NM_020708.5(SLC12A5):c.966C>A (p.Cys322Ter)
NM_020708.5(SLC12A5):c.975C>T (p.Arg325=)
NM_020708.5(SLC12A5):c.978C>T (p.Phe326=)
NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) rs1555863593
NM_020708.5(SLC12A5):c.995A>G (p.Asp332Gly)
NM_020708.5(SLC12A5):c.9C>T (p.Asn3=)

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.