ClinVar Miner

List of variants in gene SLC20A2 studied for dementia

Included ClinVar conditions (242):
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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001257180.2(SLC20A2):c.*1057C>G rs6841 0.20257
NM_001257180.2(SLC20A2):c.*570G>T rs1803657 0.09069
NM_001257180.2(SLC20A2):c.*361A>G rs3763510 0.07343
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
NM_001257180.2(SLC20A2):c.*380C>T rs72643203 0.01547
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_001257180.2(SLC20A2):c.290-13C>A rs114824268 0.01256
NM_001257180.2(SLC20A2):c.*113A>T rs115989387 0.00586
NM_001257180.2(SLC20A2):c.*112G>T rs114729286 0.00585
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974 0.00528
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) rs34124953 0.00417
NM_001257180.2(SLC20A2):c.*263A>C rs145543019 0.00402
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_001257180.2(SLC20A2):c.*120C>G rs569568894 0.00235
NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=) rs114636687 0.00212
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln) rs138816265 0.00210
NM_001257180.2(SLC20A2):c.*926C>T rs575143642 0.00066
NM_001257180.2(SLC20A2):c.290-5T>C rs371924916 0.00063
NM_001257180.2(SLC20A2):c.-89A>G rs185590768 0.00057
NM_001257180.2(SLC20A2):c.*482T>C rs558754799 0.00040
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=) rs199935692 0.00033
NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=) rs114218633 0.00031
NM_001257180.2(SLC20A2):c.1572C>T (p.Gly524=) rs116795654 0.00026
NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=) rs141545390 0.00026
NM_001257180.2(SLC20A2):c.*409A>G rs190717111 0.00025
NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met) rs145970823 0.00019
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=) rs116068659 0.00016
NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=) rs201586836 0.00011
NM_001257180.2(SLC20A2):c.935-12A>C rs144236532 0.00010
NM_001257180.2(SLC20A2):c.*798G>A rs767551448 0.00008
NM_001257180.2(SLC20A2):c.*1069G>C rs1010204441 0.00006
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) rs140059610 0.00006
NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser) rs147025172 0.00005
NM_001257180.2(SLC20A2):c.1849C>T (p.Arg617Cys) rs537867998 0.00004
NM_001257180.2(SLC20A2):c.*124G>T rs948433091 0.00003
NM_001257180.2(SLC20A2):c.*289A>C rs892436898 0.00003
NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=) rs761069656 0.00003
NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=) rs116687117 0.00003
NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp) rs1268071663 0.00002
NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=) rs199804961 0.00002
NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=) rs771290596 0.00002
NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp) rs1001310092 0.00002
NM_001257180.2(SLC20A2):c.56T>C (p.Ile19Thr) rs1034887212 0.00002
NM_001257180.2(SLC20A2):c.*539G>A rs1404962993 0.00001
NM_001257180.2(SLC20A2):c.*925G>T rs1466633393 0.00001
NM_001257180.2(SLC20A2):c.-264-4A>G rs1030242859 0.00001
NM_001257180.2(SLC20A2):c.1197C>T (p.His399=) rs767994782 0.00001
NM_001257180.2(SLC20A2):c.1377G>T (p.Glu459Asp) rs144428935 0.00001
NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val) rs748282424 0.00001
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) rs763252801 0.00001
NM_001257180.2(SLC20A2):c.1794+1G>C rs1052304545 0.00001
NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala) rs1272921798 0.00001
NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr) rs140978915 0.00001
NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=) rs1212922301 0.00001
NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del
NC_000008.10:g.(?_42275320)_(42297172_42302163)del
NG_032161.2:g.(87059_102191)_(118197_128986)del
NM_001257180.2(SLC20A2):c.*1320C>T rs963612970
NM_001257180.2(SLC20A2):c.*171G>A rs908206225
NM_001257180.2(SLC20A2):c.*538C>T rs746914329
NM_001257180.2(SLC20A2):c.*660T>C rs1211116059
NM_001257180.2(SLC20A2):c.*70C>T rs371247567
NM_001257180.2(SLC20A2):c.-181T>A rs780358007
NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn) rs748895007
NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter) rs2131006903
NM_001257180.2(SLC20A2):c.1158C>G (p.Tyr386Ter)
NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro) rs1563453866
NM_001257180.2(SLC20A2):c.1274AGA[1] (p.Lys426del)
NM_001257180.2(SLC20A2):c.1288T>A (p.Tyr430Asn) rs920439006
NM_001257180.2(SLC20A2):c.1338G>C (p.Glu446Asp) rs374973821
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter) rs1563452941
NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg) rs1586022262
NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs) rs1563452322
NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu) rs1420760497
NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)
NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs) rs2131227624
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter) rs387906653
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) rs387906654
NM_001257180.2(SLC20A2):c.1795-1G>A rs1563431044
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) rs387906652
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs) rs398122396
NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu) rs2130905407
NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)
NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser) rs1563497719
NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp) rs1563497714
NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)
NM_001257180.2(SLC20A2):c.218G>T (p.Gly73Val) rs200620922
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs) rs1563498184
NM_001257180.2(SLC20A2):c.290-1G>A rs2131192653
NM_001257180.2(SLC20A2):c.290-8A>G
NM_001257180.2(SLC20A2):c.303del (p.Trp101fs) rs1563490467
NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) rs398122395
NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu) rs188325552
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) rs398122397
NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs)
NM_001257180.2(SLC20A2):c.601A>G (p.Thr201Ala)
NM_001257180.2(SLC20A2):c.613+1G>A
NM_001257180.2(SLC20A2):c.649del (p.Leu217fs)
NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=) rs556568855
NM_001257180.2(SLC20A2):c.731-18_738del rs1234999465
NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile) rs369823081
NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs) rs2131228068
NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=) rs778920007
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg) rs781554326
NM_001257180.2(SLC20A2):c.935-2A>G rs1586025869
NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu) rs886041752
NM_001257180.2(SLC20A2):c.99del (p.Phe33fs) rs1807706006

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