ClinVar Miner

List of variants in gene SLC6A20 studied for Hyperglycinuria

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Gene type:
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Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_020208.4(SLC6A20):c.*2685T>C rs2742388 0.96477
NM_020208.4(SLC6A20):c.*599G>A rs2251347 0.96370
NM_020208.4(SLC6A20):c.417T>C (p.Cys139=) rs758386 0.96062
NM_020208.4(SLC6A20):c.263-32A>G rs2252547 0.55677
NM_020208.4(SLC6A20):c.*3519G>A rs2251109 0.34963
NM_020208.4(SLC6A20):c.1463+14G>A rs2191027 0.21012
NM_020208.4(SLC6A20):c.*871C>G rs2531750 0.16180
NM_020208.4(SLC6A20):c.26C>G (p.Ala9Gly) rs2271615 0.10332
NM_020208.4(SLC6A20):c.*537T>C rs73060335 0.08622
NM_020208.4(SLC6A20):c.-102C>A rs2271616 0.08176
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) rs17279437 0.06722
NM_020208.4(SLC6A20):c.*2479A>G rs17078308 0.06456
NM_020208.4(SLC6A20):c.282C>G (p.Val94=) rs2742399 0.05932
NM_020208.4(SLC6A20):c.507G>A (p.Glu169=) rs13314717 0.03767
NM_020208.4(SLC6A20):c.*2244G>A rs17213127 0.03271
NM_020208.4(SLC6A20):c.693+4C>T rs2276858 0.03271
NM_020208.4(SLC6A20):c.*1186T>C rs9811206 0.02859
NM_020208.4(SLC6A20):c.858C>T (p.Thr286=) rs34458611 0.02838
NM_020208.4(SLC6A20):c.*3118A>G rs116082988 0.01936
NM_020208.4(SLC6A20):c.*1192T>C rs116590098 0.01927
NM_020208.4(SLC6A20):c.*1328T>C rs144151884 0.01425
NM_020208.4(SLC6A20):c.*446G>A rs60986539 0.01053
NM_020208.4(SLC6A20):c.*146A>G rs151248695 0.00930
NM_020208.4(SLC6A20):c.*2647T>C rs115438130 0.00847
NM_020208.4(SLC6A20):c.1585A>G (p.Ile529Val) rs61731475 0.00712
NM_020208.4(SLC6A20):c.*1819T>G rs560591051 0.00667
NM_020208.4(SLC6A20):c.171G>A (p.Pro57=) rs143569697 0.00338
NM_020208.4(SLC6A20):c.1058C>T (p.Pro353Leu) rs145795590 0.00270
NM_020208.4(SLC6A20):c.147C>T (p.Ile49=) rs142086756 0.00252
NM_020208.4(SLC6A20):c.*1824G>A rs542094304 0.00245
NM_020208.4(SLC6A20):c.*1904G>A rs141143340 0.00213
NM_020208.4(SLC6A20):c.*730G>A rs145238631 0.00189
NM_020208.4(SLC6A20):c.786C>T (p.Phe262=) rs144563792 0.00134
NM_020208.4(SLC6A20):c.*1629C>T rs139410525 0.00116
NM_020208.4(SLC6A20):c.*1345T>C rs531832972 0.00113
NM_020208.4(SLC6A20):c.*1422A>G rs570836605 0.00092
NM_020208.4(SLC6A20):c.1059G>A (p.Pro353=) rs149854452 0.00071
NM_020208.4(SLC6A20):c.1086G>A (p.Ser362=) rs139940581 0.00066
NM_020208.4(SLC6A20):c.310G>A (p.Val104Ile) rs139008024 0.00066
NM_020208.4(SLC6A20):c.*548A>G rs149175344 0.00065
NM_020208.4(SLC6A20):c.*3101C>T rs554759297 0.00046
NM_020208.4(SLC6A20):c.594C>T (p.Phe198=) rs200143318 0.00045
NM_020208.4(SLC6A20):c.*3521G>T rs150202041 0.00043
NM_020208.4(SLC6A20):c.*2676T>A rs747117264 0.00042
NM_020208.4(SLC6A20):c.-99C>G rs886058549 0.00041
NM_020208.4(SLC6A20):c.*1344G>A rs866725621 0.00039
NM_020208.4(SLC6A20):c.*1527A>G rs535180634 0.00039
NM_020208.4(SLC6A20):c.*2833C>T rs186839290 0.00031
NM_020208.4(SLC6A20):c.-66C>A rs886058547 0.00029
NM_020208.4(SLC6A20):c.746T>C (p.Phe249Ser) rs147760034 0.00029
NM_020208.4(SLC6A20):c.*1760C>T rs921917450 0.00028
NM_020208.4(SLC6A20):c.*1257G>A rs145987519 0.00027
NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys) rs146474113 0.00026
NM_020208.4(SLC6A20):c.*1023C>T rs901771734 0.00024
NM_020208.4(SLC6A20):c.*2883C>T rs78001062 0.00022
NM_020208.4(SLC6A20):c.*3404C>T rs562961153 0.00022
NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg) rs141811843 0.00019
NM_020208.4(SLC6A20):c.*590G>A rs541823457 0.00017
NM_020208.4(SLC6A20):c.*654C>T rs553024616 0.00017
NM_020208.4(SLC6A20):c.132G>A (p.Leu44=) rs201961518 0.00017
NM_020208.4(SLC6A20):c.693+14C>T rs376754527 0.00016
NM_020208.4(SLC6A20):c.*2263C>T rs752347772 0.00014
NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp) rs371272274 0.00014
NM_020208.4(SLC6A20):c.1248C>T (p.Thr416=) rs139256040 0.00013
NM_020208.4(SLC6A20):c.*1987G>A rs745729359 0.00011
NM_020208.4(SLC6A20):c.*2035A>G rs778688066 0.00010
NM_020208.4(SLC6A20):c.*2898T>A rs143482997 0.00008
NM_020208.4(SLC6A20):c.354+2T>A rs531515127 0.00008
NM_020208.4(SLC6A20):c.*1285T>C rs1020234517 0.00006
NM_020208.4(SLC6A20):c.*19G>A rs191934337 0.00006
NM_020208.4(SLC6A20):c.*2017_*2018insGGA rs886058530 0.00006
NM_020208.4(SLC6A20):c.*2583T>C rs886058528 0.00006
NM_020208.4(SLC6A20):c.*2675C>G rs567898651 0.00006
NM_020208.4(SLC6A20):c.*636C>T rs993581690 0.00006
NM_020208.4(SLC6A20):c.-49T>A rs760366170 0.00006
NM_020208.4(SLC6A20):c.262+4C>T rs777914805 0.00006
NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=) rs149505473 0.00006
NM_020208.4(SLC6A20):c.*1017T>C rs1325158693 0.00005
NM_020208.4(SLC6A20):c.1236G>A (p.Ala412=) rs148597602 0.00005
NM_020208.4(SLC6A20):c.1452C>T (p.Tyr484=) rs768529237 0.00005
NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His) rs376448611 0.00005
NM_020208.4(SLC6A20):c.*644C>T rs886058538 0.00004
NM_020208.4(SLC6A20):c.1051A>C (p.Met351Leu) rs147777980 0.00004
NM_020208.4(SLC6A20):c.1747C>T (p.Leu583Phe) rs202094508 0.00004
NM_020208.4(SLC6A20):c.268G>A (p.Ala90Thr) rs565896481 0.00004
NM_020208.4(SLC6A20):c.366G>A (p.Pro122=) rs202049492 0.00004
NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu) rs776558771 0.00004
NM_020208.4(SLC6A20):c.654C>T (p.His218=) rs775911371 0.00004
NM_020208.4(SLC6A20):c.*1596T>A rs886058533 0.00003
NM_020208.4(SLC6A20):c.*2025G>A rs913333687 0.00003
NM_020208.4(SLC6A20):c.*2230C>G rs577430886 0.00003
NM_020208.4(SLC6A20):c.-84G>T rs886058548 0.00003
NM_020208.4(SLC6A20):c.1098+2T>C rs1275324148 0.00003
NM_020208.4(SLC6A20):c.1741C>T (p.Arg581Cys) rs144826762 0.00003
NM_020208.4(SLC6A20):c.615C>T (p.Cys205=) rs779053318 0.00003
NM_020208.4(SLC6A20):c.*1169T>C rs368608688 0.00002
NM_020208.4(SLC6A20):c.*1581G>C rs1425320530 0.00002
NM_020208.4(SLC6A20):c.*2198T>C rs1027821966 0.00002
NM_020208.4(SLC6A20):c.1006G>A (p.Val336Met) rs185440350 0.00002
NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=) rs371002443 0.00002
NM_020208.4(SLC6A20):c.1644C>G (p.Thr548=) rs575264353 0.00002
NM_020208.4(SLC6A20):c.258T>A (p.Gly86=) rs373600065 0.00002
NM_020208.4(SLC6A20):c.*1269G>A rs557189346 0.00001
NM_020208.4(SLC6A20):c.*1351C>T rs1035166323 0.00001
NM_020208.4(SLC6A20):c.*1891C>G rs1699558837 0.00001
NM_020208.4(SLC6A20):c.*2176T>C rs886058529 0.00001
NM_020208.4(SLC6A20):c.*2749G>A rs117126175 0.00001
NM_020208.4(SLC6A20):c.*2939A>G rs987669945 0.00001
NM_020208.4(SLC6A20):c.*3015T>C rs1251895733 0.00001
NM_020208.4(SLC6A20):c.*3320C>G rs912332829 0.00001
NM_020208.4(SLC6A20):c.*3342A>T rs924764104 0.00001
NM_020208.4(SLC6A20):c.*3383C>T rs886058527 0.00001
NM_020208.4(SLC6A20):c.*3408A>G rs886058526 0.00001
NM_020208.4(SLC6A20):c.1477C>T (p.Leu493Phe) rs771872725 0.00001
NM_020208.4(SLC6A20):c.1491C>T (p.Thr497=) rs1422741609 0.00001
NM_020208.4(SLC6A20):c.354+7C>T rs561215947 0.00001
NM_020208.4(SLC6A20):c.512C>T (p.Ala171Val) rs781203780 0.00001
NM_020208.4(SLC6A20):c.521T>A (p.Leu174His) rs145164127 0.00001
NM_020208.4(SLC6A20):c.599C>T (p.Ala200Val) rs747095857 0.00001
NM_020208.4(SLC6A20):c.991A>C (p.Ser331Arg) rs886058542 0.00001
NM_020208.4(SLC6A20):c.*1044del rs886058536
NM_020208.4(SLC6A20):c.*1063_*1064dup rs774194927
NM_020208.4(SLC6A20):c.*1066del rs886058535
NM_020208.4(SLC6A20):c.*1253A>G rs886058534
NM_020208.4(SLC6A20):c.*140G>T rs1699595536
NM_020208.4(SLC6A20):c.*142A>C rs886058539
NM_020208.4(SLC6A20):c.*1506A>T rs539802611
NM_020208.4(SLC6A20):c.*1602C>G rs886058532
NM_020208.4(SLC6A20):c.*1643G>A rs1246610058
NM_020208.4(SLC6A20):c.*1699T>C rs886058531
NM_020208.4(SLC6A20):c.*1786_*1787del rs57468640
NM_020208.4(SLC6A20):c.*2206dup rs530275150
NM_020208.4(SLC6A20):c.*2243C>G rs184846309
NM_020208.4(SLC6A20):c.*22C>G rs1699598465
NM_020208.4(SLC6A20):c.*2442A>C rs763196010
NM_020208.4(SLC6A20):c.*2492T>C rs541425547
NM_020208.4(SLC6A20):c.*2557A>C rs762250443
NM_020208.4(SLC6A20):c.*2560CTT[1] rs150768360
NM_020208.4(SLC6A20):c.*2762A>T rs1699540247
NM_020208.4(SLC6A20):c.*2808C>T rs1699538615
NM_020208.4(SLC6A20):c.*3051A>T rs1699532342
NM_020208.4(SLC6A20):c.*3102G>T rs1699531443
NM_020208.4(SLC6A20):c.*3436C>G rs569114783
NM_020208.4(SLC6A20):c.*3436C>T rs569114783
NM_020208.4(SLC6A20):c.*3486A>G rs886058525
NM_020208.4(SLC6A20):c.*697G>A rs1699585756
NM_020208.4(SLC6A20):c.*917G>A rs886058537
NM_020208.4(SLC6A20):c.-45G>C rs373219947
NM_020208.4(SLC6A20):c.-63C>A rs1700351623
NM_020208.4(SLC6A20):c.-76G>T rs1700352155
NM_020208.4(SLC6A20):c.1304-4C>G rs886058541
NM_020208.4(SLC6A20):c.1677C>G (p.Ile559Met) rs200277005
NM_020208.4(SLC6A20):c.1730C>A (p.Thr577Asn) rs886058540
NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met) rs145010504
NM_020208.4(SLC6A20):c.39G>C (p.Gln13His) rs886058546
NM_020208.4(SLC6A20):c.578G>C (p.Gly193Ala) rs886058545
NM_020208.4(SLC6A20):c.659C>T (p.Ala220Val) rs886058544
NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys) rs375971612
NM_020208.4(SLC6A20):c.694-15C>T rs1699865808
NM_020208.4(SLC6A20):c.694A>G (p.Ile232Val) rs886058543
NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro) rs763259500

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