ClinVar Miner

List of variants in gene SLC17A8 studied for not provided

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Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.474-300G>A rs1969927 0.56419
NM_139319.3(SLC17A8):c.677-244A>G rs7966317 0.55293
NM_139319.3(SLC17A8):c.1054-331A>G rs1887276 0.55272
NM_139319.3(SLC17A8):c.1426-106A>G rs7967828 0.50970
NM_139319.3(SLC17A8):c.*39A>C rs11568537 0.45975
NM_139319.3(SLC17A8):c.763+153A>G rs11110366 0.45784
NM_139319.3(SLC17A8):c.1187-45C>T rs11568536 0.42236
NM_139319.3(SLC17A8):c.1298-80C>T rs11110371 0.41016
NM_139319.2(SLC17A8):c.*1913T>A rs11110372 0.39037
NM_139319.3(SLC17A8):c.474-52T>C rs1998925 0.30498
NM_139319.3(SLC17A8):c.-218T>C rs10860582 0.18033
NM_139319.3(SLC17A8):c.474-197C>T rs10860588 0.10195
NM_139319.3(SLC17A8):c.1298-58A>C rs61941805 0.08416
NM_139319.3(SLC17A8):c.*71T>C rs75599713 0.05167
NM_139319.3(SLC17A8):c.677-281C>T rs76372830 0.04619
NM_139319.3(SLC17A8):c.1187-258G>A rs73376055 0.02328
NM_139319.3(SLC17A8):c.764-49C>T rs7970087 0.01833
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542 0.01720
NM_139319.3(SLC17A8):c.1054-46C>G rs11568549 0.01715
NM_139319.3(SLC17A8):c.676+110T>A rs111924306 0.01588
NM_139319.3(SLC17A8):c.588+208T>C rs75434658 0.01481
NM_139319.3(SLC17A8):c.354+173C>G rs372598021 0.01206
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_139319.3(SLC17A8):c.354+230A>T rs115154019 0.00909
NM_139319.3(SLC17A8):c.589-173G>A rs116141253 0.00808
NM_139319.3(SLC17A8):c.1426-100C>T rs141057478 0.00777
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NC_000012.12:g.100356902C>A rs57691371 0.00613
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843 0.00512
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359 0.00452
NM_139319.3(SLC17A8):c.588+192T>C rs75783202 0.00438
NM_139319.3(SLC17A8):c.102-24C>A rs148710845 0.00385
NM_139319.3(SLC17A8):c.1425+23T>C rs139883070 0.00380
NM_139319.3(SLC17A8):c.354+16T>C rs77707755 0.00380
NM_139319.3(SLC17A8):c.473+34A>G rs187512004 0.00354
NM_139319.3(SLC17A8):c.589-278G>C rs141238572 0.00314
NM_139319.3(SLC17A8):c.1426-325G>A rs376171657 0.00277
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546 0.00265
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_139319.3(SLC17A8):c.-246T>C rs60738448 0.00093
NM_139319.3(SLC17A8):c.1298-42T>G rs149923650 0.00090
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_139319.3(SLC17A8):c.589-22C>T rs144949912 0.00056
NM_139319.3(SLC17A8):c.1299T>A (p.Gly433=) rs200869525 0.00039
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) rs201679317 0.00027
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) rs373954823 0.00027
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) rs11568530 0.00024
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) rs11568545 0.00019
NM_139319.3(SLC17A8):c.389G>A (p.Gly130Asp) rs771270860 0.00011
NM_139319.3(SLC17A8):c.1213C>G (p.Leu405Val) rs138338989 0.00010
NM_139319.3(SLC17A8):c.1690G>C (p.Gly564Arg) rs778180234 0.00009
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) rs140537845 0.00008
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) rs374356596 0.00008
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_139319.3(SLC17A8):c.15A>G (p.Ala5=) rs540525737 0.00007
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) rs141811441 0.00007
NM_139319.3(SLC17A8):c.532G>A (p.Ala178Thr) rs142102133 0.00007
NM_139319.3(SLC17A8):c.161C>T (p.Pro54Leu) rs372830647 0.00006
NM_139319.3(SLC17A8):c.237T>C (p.Ala79=) rs138991031 0.00006
NM_139319.3(SLC17A8):c.27C>T (p.Phe9=) rs747326620 0.00006
NM_139319.3(SLC17A8):c.552C>T (p.Cys184=) rs139101406 0.00006
NM_139319.3(SLC17A8):c.*6G>C rs776625466 0.00004
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) rs138232575 0.00004
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) rs374159026 0.00004
NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys) rs767334253 0.00004
NM_139319.3(SLC17A8):c.1559G>T (p.Cys520Phe) rs368831665 0.00004
NM_139319.3(SLC17A8):c.473+16A>G rs377700490 0.00004
NM_139319.3(SLC17A8):c.473+2T>C rs201585182 0.00004
NM_139319.3(SLC17A8):c.485C>T (p.Ala162Val) rs765156218 0.00004
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) rs369209552 0.00004
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) rs748076639 0.00004
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) rs727503424 0.00004
NM_139319.3(SLC17A8):c.102-18A>G rs761609858 0.00003
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) rs199746996 0.00003
NM_139319.3(SLC17A8):c.1264C>T (p.Leu422Phe) rs773405011 0.00003
NM_139319.3(SLC17A8):c.473+13G>A rs376526415 0.00003
NM_139319.3(SLC17A8):c.473+17T>C rs754541835 0.00003
NM_139319.3(SLC17A8):c.1187-10C>T rs768173927 0.00002
NM_139319.3(SLC17A8):c.1362C>T (p.Asn454=) rs185867962 0.00002
NM_139319.3(SLC17A8):c.139G>C (p.Glu47Gln) rs746961176 0.00002
NM_139319.3(SLC17A8):c.1425+11C>A rs761161529 0.00002
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=) rs141294063 0.00002
NM_139319.3(SLC17A8):c.1615T>G (p.Phe539Val) rs372802080 0.00002
NM_139319.3(SLC17A8):c.584T>C (p.Val195Ala) rs886043439 0.00002
NM_139319.3(SLC17A8):c.1128T>C (p.Tyr376=) rs1231106375 0.00001
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) rs1168855290 0.00001
NM_139319.3(SLC17A8):c.142C>T (p.Leu48=) rs768694606 0.00001
NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) rs773887574 0.00001
NM_139319.3(SLC17A8):c.17T>C (p.Phe6Ser) rs764793737 0.00001
NM_139319.3(SLC17A8):c.196G>A (p.Asp66Asn) rs781283307 0.00001
NM_139319.3(SLC17A8):c.200G>A (p.Cys67Tyr) rs1214978759 0.00001
NM_139319.3(SLC17A8):c.224G>A (p.Arg75His) rs559227009 0.00001
NM_139319.3(SLC17A8):c.243G>A (p.Met81Ile) rs762001520 0.00001
NM_139319.3(SLC17A8):c.27_30del (p.Phe9fs) rs759548310 0.00001
NM_139319.3(SLC17A8):c.29A>G (p.Lys10Arg) rs1229096838 0.00001
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile) rs144556614 0.00001
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) rs751132044 0.00001
NM_139319.3(SLC17A8):c.*1513_*1521del rs59689031
NM_139319.3(SLC17A8):c.*1521dup rs59689031
NM_139319.3(SLC17A8):c.1007G>A (p.Ser336Asn)
NM_139319.3(SLC17A8):c.1015_1016delinsAA (p.Ala339Asn) rs1555327066
NM_139319.3(SLC17A8):c.102-310A>G rs943403
NM_139319.3(SLC17A8):c.102-5T>C
NM_139319.3(SLC17A8):c.1053+8C>T
NM_139319.3(SLC17A8):c.1054-1G>C
NM_139319.3(SLC17A8):c.1057G>A (p.Gly353Ser)
NM_139319.3(SLC17A8):c.1095C>T (p.Ile365=)
NM_139319.3(SLC17A8):c.1097T>C (p.Val366Ala) rs2136007216
NM_139319.3(SLC17A8):c.1116A>G (p.Gln372=)
NM_139319.3(SLC17A8):c.1121_1184del (p.Ala374fs)
NM_139319.3(SLC17A8):c.1157C>T (p.Thr386Ile) rs964871931
NM_139319.3(SLC17A8):c.1178A>G (p.Asn393Ser)
NM_139319.3(SLC17A8):c.1187-127del rs138819500
NM_139319.3(SLC17A8):c.1187-127dup rs138819500
NM_139319.3(SLC17A8):c.1187-159del rs57500563
NM_139319.3(SLC17A8):c.1187-159dup rs57500563
NM_139319.3(SLC17A8):c.1187-3C>T
NM_139319.3(SLC17A8):c.1211T>C (p.Leu404Pro)
NM_139319.3(SLC17A8):c.1220T>C (p.Val407Ala)
NM_139319.3(SLC17A8):c.1229C>T (p.Ser410Leu)
NM_139319.3(SLC17A8):c.1242_1243del (p.Val415fs) rs2136014789
NM_139319.3(SLC17A8):c.1262T>C (p.Val421Ala)
NM_139319.3(SLC17A8):c.1297+17G>A
NM_139319.3(SLC17A8):c.1297+4dup rs1952880533
NM_139319.3(SLC17A8):c.1298-14dup rs730880358
NM_139319.3(SLC17A8):c.1298-17T>A
NM_139319.3(SLC17A8):c.1298-4G>A
NM_139319.3(SLC17A8):c.1298-5T>A
NM_139319.3(SLC17A8):c.129A>C (p.Glu43Asp)
NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs)
NM_139319.3(SLC17A8):c.1353G>C (p.Gly451=)
NM_139319.3(SLC17A8):c.1400T>C (p.Ile467Thr)
NM_139319.3(SLC17A8):c.1405G>A (p.Gly469Ser)
NM_139319.3(SLC17A8):c.1426-18C>A
NM_139319.3(SLC17A8):c.1426-269del rs754527564
NM_139319.3(SLC17A8):c.1426-269dup rs754527564
NM_139319.3(SLC17A8):c.1429C>T (p.Arg477Cys)
NM_139319.3(SLC17A8):c.1493A>G (p.Tyr498Cys) rs1952934959
NM_139319.3(SLC17A8):c.1504G>C (p.Ala502Pro)
NM_139319.3(SLC17A8):c.1565T>G (p.Ile522Ser)
NM_139319.3(SLC17A8):c.1581A>C (p.Glu527Asp)
NM_139319.3(SLC17A8):c.162G>A (p.Pro54=)
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del) rs141689561
NM_139319.3(SLC17A8):c.1632G>A (p.Lys544=)
NM_139319.3(SLC17A8):c.1640C>G (p.Ser547Cys)
NM_139319.3(SLC17A8):c.164dup (p.Gln56fs)
NM_139319.3(SLC17A8):c.1652C>T (p.Thr551Ile)
NM_139319.3(SLC17A8):c.1662T>C (p.Asn554=)
NM_139319.3(SLC17A8):c.166C>A (p.Gln56Lys)
NM_139319.3(SLC17A8):c.1689del (p.Gly564fs) rs757543449
NM_139319.3(SLC17A8):c.1707C>A (p.Thr569=)
NM_139319.3(SLC17A8):c.1730C>T (p.Ser577Phe)
NM_139319.3(SLC17A8):c.1736A>T (p.Gln579Leu)
NM_139319.3(SLC17A8):c.173C>T (p.Ser58Phe)
NM_139319.3(SLC17A8):c.1746G>C (p.Glu582Asp)
NM_139319.3(SLC17A8):c.1756T>C (p.Ser586Pro)
NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg)
NM_139319.3(SLC17A8):c.187C>G (p.Pro63Ala)
NM_139319.3(SLC17A8):c.188C>G (p.Pro63Arg)
NM_139319.3(SLC17A8):c.211G>A (p.Gly71Ser)
NM_139319.3(SLC17A8):c.223C>T (p.Arg75Cys)
NM_139319.3(SLC17A8):c.235G>A (p.Ala79Thr)
NM_139319.3(SLC17A8):c.284A>G (p.Asn95Ser)
NM_139319.3(SLC17A8):c.322A>G (p.Thr108Ala)
NM_139319.3(SLC17A8):c.330T>C (p.Tyr110=)
NM_139319.3(SLC17A8):c.331G>A (p.Val111Ile)
NM_139319.3(SLC17A8):c.344C>T (p.Pro115Leu)
NM_139319.3(SLC17A8):c.354+177CATCTCAG[4] rs59620980
NM_139319.3(SLC17A8):c.355-12T>G
NM_139319.3(SLC17A8):c.356C>G (p.Thr119Arg)
NM_139319.3(SLC17A8):c.356C>T (p.Thr119Ile)
NM_139319.3(SLC17A8):c.37dup (p.Ile13fs)
NM_139319.3(SLC17A8):c.398A>G (p.His133Arg)
NM_139319.3(SLC17A8):c.402A>T (p.Gly134=)
NM_139319.3(SLC17A8):c.439G>A (p.Gly147Ser)
NM_139319.3(SLC17A8):c.443G>C (p.Gly148Ala)
NM_139319.3(SLC17A8):c.473+329G>A rs11837528
NM_139319.3(SLC17A8):c.474-14C>A
NM_139319.3(SLC17A8):c.474-3dup rs757414143
NM_139319.3(SLC17A8):c.474-5C>A
NM_139319.3(SLC17A8):c.489C>T (p.Ala163=)
NM_139319.3(SLC17A8):c.504G>A (p.Ser168=)
NM_139319.3(SLC17A8):c.547G>C (p.Gly183Arg) rs150737570
NM_139319.3(SLC17A8):c.553G>A (p.Val185Ile)
NM_139319.3(SLC17A8):c.573G>T (p.Leu191=)
NM_139319.3(SLC17A8):c.588+11C>T
NM_139319.3(SLC17A8):c.588+20C>T
NM_139319.3(SLC17A8):c.589-17T>C
NM_139319.3(SLC17A8):c.589-256T>C rs7960935
NM_139319.3(SLC17A8):c.591T>C (p.Gly197=)
NM_139319.3(SLC17A8):c.603A>G (p.Pro201=)
NM_139319.3(SLC17A8):c.60A>T (p.Gly20=)
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) rs121918339
NM_139319.3(SLC17A8):c.663A>G (p.Thr221=)
NM_139319.3(SLC17A8):c.664A>T (p.Thr222Ser) rs2135999713
NM_139319.3(SLC17A8):c.676+183del rs146805348
NM_139319.3(SLC17A8):c.676+183dup rs146805348
NM_139319.3(SLC17A8):c.676+3G>A
NM_139319.3(SLC17A8):c.676+3G>C
NM_139319.3(SLC17A8):c.676+8T>C
NM_139319.3(SLC17A8):c.676+9A>G
NM_139319.3(SLC17A8):c.677-18_677-15del
NM_139319.3(SLC17A8):c.737G>C (p.Gly246Ala) rs11568543
NM_139319.3(SLC17A8):c.743C>T (p.Ser248Phe)
NM_139319.3(SLC17A8):c.763+58A>G rs11568544
NM_139319.3(SLC17A8):c.764-6C>G
NM_139319.3(SLC17A8):c.765C>T (p.Gly255=)
NM_139319.3(SLC17A8):c.766A>T (p.Met256Leu)
NM_139319.3(SLC17A8):c.785A>C (p.Tyr262Ser)
NM_139319.3(SLC17A8):c.830C>T (p.Pro277Leu)
NM_139319.3(SLC17A8):c.842A>G (p.Asn281Ser) rs1952797971
NM_139319.3(SLC17A8):c.888C>A (p.Asn296Lys)
NM_139319.3(SLC17A8):c.889G>A (p.Val297Met)
NM_139319.3(SLC17A8):c.898C>T (p.Leu300=)
NM_139319.3(SLC17A8):c.903+9A>G
NM_139319.3(SLC17A8):c.920G>A (p.Trp307Ter)
NM_139319.3(SLC17A8):c.944C>T (p.Pro315Leu)
NM_139319.3(SLC17A8):c.945G>A (p.Pro315=)
NM_139319.3(SLC17A8):c.959T>C (p.Ile320Thr) rs754155476

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