ClinVar Miner

List of variants in gene SLC12A5 reported as likely benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 406
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HGVS dbSNP gnomAD frequency
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.3126-3dup rs767708918 0.00049
NM_020708.5(SLC12A5):c.276G>C (p.Val92=) rs141848967 0.00045
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.2378-18C>A rs199747973 0.00034
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.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_020708.5(SLC12A5):c.481+11G>A rs191849612 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.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.2840C>G (p.Ala947Gly) rs199934904 0.00009
NM_020708.5(SLC12A5):c.2182-11C>A rs369990409 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.1788-9C>T rs773585521 0.00006
NM_020708.5(SLC12A5):c.1936C>A (p.Arg646=) rs771263913 0.00006
NM_020708.5(SLC12A5):c.2012+14G>T rs1180929890 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.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.1008C>T (p.Thr336=) rs367965141 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.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.2601T>C (p.Asn867=) rs374813251 0.00004
NM_020708.5(SLC12A5):c.3126-6C>A rs372120376 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.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.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.2862C>T (p.Asn954=) rs754601939 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.855-19C>T rs372069124 0.00003
NM_020708.5(SLC12A5):c.1005C>T (p.Phe335=) rs755725158 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.2259C>T (p.Gly753=) rs764791575 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.2841C>T (p.Ala947=) rs574591288 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.3110+18A>C rs202018911 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.1023A>G (p.Thr341=) rs1224748748 0.00001
NM_020708.5(SLC12A5):c.1101G>T (p.Val367=) rs745635839 0.00001
NM_020708.5(SLC12A5):c.1203C>T (p.Thr401=) rs1357953426 0.00001
NM_020708.5(SLC12A5):c.1308C>T (p.Ile436=) rs1366527252 0.00001
NM_020708.5(SLC12A5):c.1380C>T (p.Val460=) rs2084571064 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.1590C>T (p.Ala530=) rs2084590822 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.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.2085C>T (p.Thr695=) rs747468488 0.00001
NM_020708.5(SLC12A5):c.2088C>T (p.Ser696=) rs1383866766 0.00001
NM_020708.5(SLC12A5):c.2163G>A (p.Gln721=) rs1423882969 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.2377+19G>T rs759266825 0.00001
NM_020708.5(SLC12A5):c.2378-20C>G rs377253900 0.00001
NM_020708.5(SLC12A5):c.2547+16G>C rs755275909 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 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.2829A>G (p.Arg943=) rs374273794 0.00001
NM_020708.5(SLC12A5):c.2844C>T (p.Asn948=) rs1273740578 0.00001
NM_020708.5(SLC12A5):c.2877G>A (p.Thr959=) rs771915911 0.00001
NM_020708.5(SLC12A5):c.2880T>C (p.Ala960=) rs760701805 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.306C>T (p.Gly102=) rs907254238 0.00001
NM_020708.5(SLC12A5):c.3120G>A (p.Glu1040=) rs761882854 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.3252T>C (p.Asp1084=) rs751114001 0.00001
NM_020708.5(SLC12A5):c.3259+20G>T rs767118034 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.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.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.969C>T (p.Ser323=) rs1186052510 0.00001
NM_020708.5(SLC12A5):c.981C>G (p.Leu327=) rs1246713640 0.00001
NM_020708.5(SLC12A5):c.984C>T (p.Asn328=) rs754526924 0.00001
NM_020708.5(SLC12A5):c.1011A>G (p.Arg337=)
NM_020708.5(SLC12A5):c.1020C>T (p.Val340=) rs775553439
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.1066+14C>T rs1324741256
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.1089G>T (p.Leu363=)
NM_020708.5(SLC12A5):c.1098C>G (p.Gly366=) rs770170831
NM_020708.5(SLC12A5):c.1119G>A (p.Gly373=) rs986597650
NM_020708.5(SLC12A5):c.1164C>T (p.Asp388=)
NM_020708.5(SLC12A5):c.1194C>T (p.Ser398=)
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.1336+18G>A
NM_020708.5(SLC12A5):c.1337-9C>T
NM_020708.5(SLC12A5):c.1374G>A (p.Glu458=) rs145624716
NM_020708.5(SLC12A5):c.1383C>A (p.Val461=)
NM_020708.5(SLC12A5):c.1386G>A (p.Leu462=)
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.1435C>T (p.Leu479=)
NM_020708.5(SLC12A5):c.147+14G>A
NM_020708.5(SLC12A5):c.147+17G>A
NM_020708.5(SLC12A5):c.147+8G>T
NM_020708.5(SLC12A5):c.147+9C>T rs2145481731
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.1500G>A (p.Leu500=) rs2145493717
NM_020708.5(SLC12A5):c.1500G>T (p.Leu500=)
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.1593T>C (p.Asn531=)
NM_020708.5(SLC12A5):c.1596A>G (p.Gly532=) rs2145494688
NM_020708.5(SLC12A5):c.1602G>A (p.Pro534=) rs761507003
NM_020708.5(SLC12A5):c.1688+14T>C
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.1767A>G (p.Pro589=)
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.1788-12C>A
NM_020708.5(SLC12A5):c.1788-17C>A
NM_020708.5(SLC12A5):c.1788-9C>G
NM_020708.5(SLC12A5):c.1806C>A (p.Gly602=) rs140595322
NM_020708.5(SLC12A5):c.1806C>T (p.Gly602=)
NM_020708.5(SLC12A5):c.1824C>T (p.Ala608=) rs959050230
NM_020708.5(SLC12A5):c.1854A>G (p.Ala618=)
NM_020708.5(SLC12A5):c.1890G>A (p.Lys630=)
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.192C>A (p.Gly64=) rs771247445
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.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.2067C>T (p.Pro689=) rs1383910539
NM_020708.5(SLC12A5):c.2073G>A (p.Leu691=) rs778428073
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.2110C>T (p.Leu704=) rs1600602344
NM_020708.5(SLC12A5):c.2130C>A (p.Val710=) rs2145499678
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.2170C>A (p.Arg724=) rs532191036
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.219G>A (p.Gln73=)
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.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.2301G>A (p.Gln767=)
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.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.2433T>C (p.Val811=)
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020708.5(SLC12A5):c.2478C>T (p.Ile826=)
NM_020708.5(SLC12A5):c.2493T>A (p.Ile831=) rs2084660049
NM_020708.5(SLC12A5):c.2502T>C (p.Asp834=) rs2145503678
NM_020708.5(SLC12A5):c.2514C>T (p.Leu838=) rs768958786
NM_020708.5(SLC12A5):c.252T>C (p.Asn84=)
NM_020708.5(SLC12A5):c.2547+12G>A rs1475116544
NM_020708.5(SLC12A5):c.2547+8G>T rs1555867366
NM_020708.5(SLC12A5):c.2548-5_2548-4delinsCT rs1600604943
NM_020708.5(SLC12A5):c.2548-8G>T
NM_020708.5(SLC12A5):c.2577C>T (p.Phe859=) rs2145504264
NM_020708.5(SLC12A5):c.2628C>T (p.Thr876=)
NM_020708.5(SLC12A5):c.2655T>C (p.Thr885=)
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.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.2706C>T (p.Thr902=)
NM_020708.5(SLC12A5):c.2719T>C (p.Leu907=)
NM_020708.5(SLC12A5):c.2721G>A (p.Leu907=)
NM_020708.5(SLC12A5):c.2760T>C (p.His920=) rs1600605834
NM_020708.5(SLC12A5):c.276G>A (p.Val92=)
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.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.2811A>T (p.Ser937=) rs1296196636
NM_020708.5(SLC12A5):c.2812C>A (p.Arg938=)
NM_020708.5(SLC12A5):c.2847G>A (p.Thr949=)
NM_020708.5(SLC12A5):c.2856C>T (p.Arg952=) rs2084690897
NM_020708.5(SLC12A5):c.2868A>G (p.Pro956=)
NM_020708.5(SLC12A5):c.288C>T (p.Arg96=)
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.2911-10C>T
NM_020708.5(SLC12A5):c.2911-5C>T
NM_020708.5(SLC12A5):c.2911-7C>A
NM_020708.5(SLC12A5):c.2925C>T (p.His975=) rs778476586
NM_020708.5(SLC12A5):c.2958C>T (p.Ser986=)
NM_020708.5(SLC12A5):c.2960C>T (p.Pro987Leu)
NM_020708.5(SLC12A5):c.2985G>A (p.Gly995=) rs2145508040
NM_020708.5(SLC12A5):c.2991G>A (p.Gly997=)
NM_020708.5(SLC12A5):c.3009G>A (p.Lys1003=)
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.3051G>A (p.Lys1017=)
NM_020708.5(SLC12A5):c.3072C>G (p.Val1024=)
NM_020708.5(SLC12A5):c.309G>A (p.Val103=) rs748333271
NM_020708.5(SLC12A5):c.3110+10T>C rs2145508277
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.3163C>A (p.Arg1055=) rs2084704107
NM_020708.5(SLC12A5):c.3178A>G (p.Ile1060Val) rs770196677
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.3240C>T (p.Asn1080=) rs912083023
NM_020708.5(SLC12A5):c.3243C>T (p.Arg1081=)
NM_020708.5(SLC12A5):c.33C>A (p.Gly11=) rs2145473814
NM_020708.5(SLC12A5):c.363C>G (p.Thr121=)
NM_020708.5(SLC12A5):c.369G>A (p.Val123=) rs2084494146
NM_020708.5(SLC12A5):c.39G>C (p.Gly13=) rs2145473827
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.427-6T>C
NM_020708.5(SLC12A5):c.429G>A (p.Thr143=) rs749462257
NM_020708.5(SLC12A5):c.435C>T (p.Leu145=) rs1600591942
NM_020708.5(SLC12A5):c.447C>T (p.Ser149=)
NM_020708.5(SLC12A5):c.45C>T (p.Ala15=)
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.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+9T>C
NM_020708.5(SLC12A5):c.53-9C>A rs2145481592
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.636C>T (p.Ala212=)
NM_020708.5(SLC12A5):c.645G>A (p.Lys215=)
NM_020708.5(SLC12A5):c.669A>G (p.Ala223=) rs932821826
NM_020708.5(SLC12A5):c.675C>T (p.Ala225=)
NM_020708.5(SLC12A5):c.6A>G (p.Leu2=)
NM_020708.5(SLC12A5):c.714C>T (p.Leu238=)
NM_020708.5(SLC12A5):c.732G>T (p.Val244=) rs2145487973
NM_020708.5(SLC12A5):c.756C>T (p.Val252=) rs1206373570
NM_020708.5(SLC12A5):c.75C>T (p.Ser25=)
NM_020708.5(SLC12A5):c.802C>T (p.Leu268=)
NM_020708.5(SLC12A5):c.854+13G>T
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.879G>A (p.Thr293=) rs138406290
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.939G>A (p.Val313=) rs149300952
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.975C>T (p.Arg325=)
NM_020708.5(SLC12A5):c.978C>T (p.Phe326=)
NM_020708.5(SLC12A5):c.9C>T (p.Asn3=)

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