ClinVar Miner

List of variants in gene SZT2 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 478
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.8626-3T>C rs2255632 0.32528
NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) rs2782643 0.31563
NM_001365999.1(SZT2):c.7356A>G (p.Glu2452=) rs2027130 0.31124
NM_001365999.1(SZT2):c.5385T>G (p.Ser1795=) rs12129487 0.03117
NM_001365999.1(SZT2):c.6888C>T (p.Cys2296=) rs72671125 0.01988
NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg) rs114759137 0.01542
NM_001365999.1(SZT2):c.348C>A (p.Ile116=) rs41312024 0.01256
NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His) rs147797700 0.01015
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_001365999.1(SZT2):c.4051T>C (p.Trp1351Arg) rs72883814 0.00798
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586 0.00768
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00717
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993 0.00598
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=) rs140788949 0.00511
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) rs116536134 0.00441
NM_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) rs149831634 0.00427
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) rs12089231 0.00279
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00267
NM_001365999.1(SZT2):c.9782G>A (p.Arg3261Gln) rs190363418 0.00207
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) rs149812437 0.00200
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_001365999.1(SZT2):c.7831C>T (p.Leu2611=) rs140744209 0.00174
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) rs142822908 0.00173
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677 0.00134
NM_001365999.1(SZT2):c.3267C>T (p.Val1089=) rs147008168 0.00125
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) rs143935839 0.00119
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395 0.00113
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) rs2275098 0.00112
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) rs72637949 0.00103
NM_001365999.1(SZT2):c.3570C>T (p.Val1190=) rs147644619 0.00098
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154 0.00098
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887 0.00096
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) rs139027171 0.00093
NM_001365999.1(SZT2):c.8427G>A (p.Glu2809=) rs140309222 0.00088
NM_001365999.1(SZT2):c.7512-3C>T rs117106532 0.00086
NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) rs187106999 0.00086
NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=) rs138585463 0.00085
NM_001365999.1(SZT2):c.9555C>T (p.His3185=) rs150150240 0.00079
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) rs147309177 0.00073
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125 0.00068
NM_001365999.1(SZT2):c.9732G>A (p.Pro3244=) rs200250871 0.00066
NM_001365999.1(SZT2):c.7641C>T (p.His2547=) rs144699351 0.00063
NM_001365999.1(SZT2):c.4342C>T (p.Arg1448Cys) rs140004653 0.00061
NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val) rs368272173 0.00061
NM_001365999.1(SZT2):c.2038-3C>T rs578153834 0.00060
NM_001365999.1(SZT2):c.9201C>T (p.His3067=) rs114396679 0.00056
NM_001365999.1(SZT2):c.1791C>T (p.His597=) rs151110718 0.00055
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) rs145882968 0.00055
NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser) rs150966402 0.00054
NM_001365999.1(SZT2):c.9828C>T (p.Asp3276=) rs12756587 0.00046
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) rs140427193 0.00039
NM_001365999.1(SZT2):c.5937C>T (p.His1979=) rs149717460 0.00038
NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln) rs200443293 0.00038
NM_001365999.1(SZT2):c.2787C>G (p.Asp929Glu) rs149778841 0.00035
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) rs138028425 0.00034
NM_001365999.1(SZT2):c.2774A>T (p.Lys925Met) rs146937951 0.00033
NM_001365999.1(SZT2):c.4210C>T (p.Arg1404Cys) rs150269825 0.00033
NM_001365999.1(SZT2):c.2025G>A (p.Pro675=) rs561698107 0.00032
NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=) rs373047934 0.00031
NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser) rs144139818 0.00031
NM_001365999.1(SZT2):c.2499C>T (p.Phe833=) rs777334279 0.00030
NM_001365999.1(SZT2):c.1335A>T (p.Ala445=) rs377411973 0.00027
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg) rs144176855 0.00025
NM_001365999.1(SZT2):c.1296G>A (p.Leu432=) rs769656441 0.00024
NM_001365999.1(SZT2):c.7513C>T (p.Arg2505Cys) rs199830565 0.00024
NM_001365999.1(SZT2):c.9172G>A (p.Val3058Met) rs143959495 0.00024
NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg) rs149741610 0.00022
NM_001365999.1(SZT2):c.6956C>T (p.Pro2319Leu) rs150979208 0.00022
NM_001365999.1(SZT2):c.1458T>C (p.Arg486=) rs376484331 0.00021
NM_001365999.1(SZT2):c.368A>G (p.His123Arg) rs147519875 0.00021
NM_001365999.1(SZT2):c.528T>C (p.Pro176=) rs780340130 0.00021
NM_001365999.1(SZT2):c.3368G>A (p.Arg1123His) rs138477355 0.00019
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=) rs138303356 0.00019
NM_001365999.1(SZT2):c.5813T>C (p.Ile1938Thr) rs139028174 0.00017
NM_001365999.1(SZT2):c.2788C>T (p.Leu930=) rs148208657 0.00016
NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=) rs373992628 0.00016
NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile) rs139147641 0.00015
NM_001365999.1(SZT2):c.9286+5G>A rs367775055 0.00015
NM_001365999.1(SZT2):c.9795G>C (p.Leu3265=) rs569613488 0.00015
NM_001365999.1(SZT2):c.2034C>T (p.His678=) rs201529142 0.00014
NM_001365999.1(SZT2):c.4480+4T>C rs377184977 0.00014
NM_001365999.1(SZT2):c.4524G>A (p.Glu1508=) rs146416049 0.00014
NM_001365999.1(SZT2):c.2228A>G (p.His743Arg) rs545593466 0.00013
NM_001365999.1(SZT2):c.8039G>A (p.Arg2680His) rs144218947 0.00013
NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His) rs150591561 0.00013
NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=) rs372935996 0.00013
NM_001365999.1(SZT2):c.9260A>G (p.His3087Arg) rs758905735 0.00013
NM_001365999.1(SZT2):c.7671C>T (p.Ile2557=) rs201311847 0.00012
NM_001365999.1(SZT2):c.9630C>T (p.Arg3210=) rs773985024 0.00012
NM_001365999.1(SZT2):c.3838G>A (p.Ala1280Thr) rs141075866 0.00011
NM_001365999.1(SZT2):c.4211G>A (p.Arg1404His) rs149353601 0.00011
NM_001365999.1(SZT2):c.5161C>T (p.His1721Tyr) rs376678520 0.00011
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=) rs187188981 0.00011
NM_001365999.1(SZT2):c.6306C>G (p.Ser2102=) rs1009175468 0.00011
NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp) rs773708821 0.00011
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994 0.00010
NM_001365999.1(SZT2):c.2014A>T (p.Thr672Ser) rs190973132 0.00009
NM_001365999.1(SZT2):c.2915C>T (p.Pro972Leu) rs139474741 0.00009
NM_001365999.1(SZT2):c.3251C>T (p.Pro1084Leu) rs373408367 0.00009
NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met) rs201312287 0.00009
NM_001365999.1(SZT2):c.5142C>T (p.Ile1714=) rs756050426 0.00009
NM_001365999.1(SZT2):c.5380C>T (p.Pro1794Ser) rs375216274 0.00009
NM_001365999.1(SZT2):c.5528G>A (p.Gly1843Glu) rs183034572 0.00009
NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser) rs370230435 0.00009
NM_001365999.1(SZT2):c.6628-3C>T rs375885010 0.00009
NM_001365999.1(SZT2):c.8295C>T (p.Asp2765=) rs181686875 0.00009
NM_001365999.1(SZT2):c.8725C>T (p.Leu2909=) rs111662559 0.00009
NM_001365999.1(SZT2):c.1312C>T (p.Arg438Cys) rs373013502 0.00008
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys) rs143185010 0.00008
NM_001365999.1(SZT2):c.6351C>T (p.Leu2117=) rs370166503 0.00008
NM_001365999.1(SZT2):c.7069T>C (p.Leu2357=) rs771086530 0.00008
NM_001365999.1(SZT2):c.8044G>A (p.Val2682Met) rs749819665 0.00008
NM_001365999.1(SZT2):c.28-5C>T rs372519036 0.00007
NM_001365999.1(SZT2):c.3489G>A (p.Lys1163=) rs149793909 0.00007
NM_001365999.1(SZT2):c.5516G>A (p.Arg1839His) rs760427137 0.00007
NM_001365999.1(SZT2):c.5680C>T (p.Arg1894Trp) rs761963698 0.00007
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274 0.00007
NM_001365999.1(SZT2):c.9049A>G (p.Met3017Val) rs143624137 0.00007
NM_001365999.1(SZT2):c.1191C>T (p.Ala397=) rs772072313 0.00006
NM_001365999.1(SZT2):c.4814G>T (p.Gly1605Val) rs748780265 0.00006
NM_001365999.1(SZT2):c.5551C>T (p.Arg1851Trp) rs148100527 0.00006
NM_001365999.1(SZT2):c.6536G>A (p.Arg2179Gln) rs185955600 0.00006
NM_001365999.1(SZT2):c.6738C>T (p.Leu2246=) rs374441368 0.00006
NM_001365999.1(SZT2):c.7479G>A (p.Ala2493=) rs751309639 0.00006
NM_001365999.1(SZT2):c.7802G>A (p.Arg2601His) rs757425191 0.00006
NM_001365999.1(SZT2):c.7900C>G (p.Pro2634Ala) rs763289414 0.00006
NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=) rs201027552 0.00006
NM_001365999.1(SZT2):c.1742G>A (p.Arg581His) rs747998865 0.00005
NM_001365999.1(SZT2):c.2256-4C>G rs373433199 0.00005
NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu) rs753130543 0.00005
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln) rs149633993 0.00005
NM_001365999.1(SZT2):c.3823C>G (p.Pro1275Ala) rs200612162 0.00005
NM_001365999.1(SZT2):c.4246T>G (p.Ser1416Ala) rs760664038 0.00005
NM_001365999.1(SZT2):c.4280C>T (p.Ala1427Val) rs1489168291 0.00005
NM_001365999.1(SZT2):c.4721G>A (p.Arg1574Gln) rs532357677 0.00005
NM_001365999.1(SZT2):c.5282G>A (p.Arg1761His) rs377397872 0.00005
NM_001365999.1(SZT2):c.6541C>T (p.Leu2181=) rs145034016 0.00005
NM_001365999.1(SZT2):c.7019C>T (p.Pro2340Leu) rs199939601 0.00005
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180 0.00004
NM_001365999.1(SZT2):c.1395C>T (p.Gly465=) rs373535733 0.00004
NM_001365999.1(SZT2):c.2095A>T (p.Ser699Cys) rs561464206 0.00004
NM_001365999.1(SZT2):c.245T>C (p.Val82Ala) rs1274088465 0.00004
NM_001365999.1(SZT2):c.2528T>C (p.Met843Thr) rs747523743 0.00004
NM_001365999.1(SZT2):c.2792C>T (p.Thr931Met) rs755130899 0.00004
NM_001365999.1(SZT2):c.2930-4G>A rs780736141 0.00004
NM_001365999.1(SZT2):c.3916C>T (p.Arg1306Cys) rs760099699 0.00004
NM_001365999.1(SZT2):c.3950G>A (p.Ser1317Asn) rs998845607 0.00004
NM_001365999.1(SZT2):c.4599C>T (p.Asp1533=) rs200228680 0.00004
NM_001365999.1(SZT2):c.4717G>A (p.Val1573Met) rs556736033 0.00004
NM_001365999.1(SZT2):c.5281C>T (p.Arg1761Cys) rs765040883 0.00004
NM_001365999.1(SZT2):c.6532G>A (p.Val2178Met) rs143685264 0.00004
NM_001365999.1(SZT2):c.6812G>C (p.Gly2271Ala) rs367873208 0.00004
NM_001365999.1(SZT2):c.7651C>T (p.Arg2551Trp) rs749179825 0.00004
NM_001365999.1(SZT2):c.7657C>T (p.Leu2553Phe) rs1028753286 0.00004
NM_001365999.1(SZT2):c.7743-4A>G rs368440874 0.00004
NM_001365999.1(SZT2):c.8258G>A (p.Gly2753Asp) rs752993966 0.00004
NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=) rs149672814 0.00004
NM_001365999.1(SZT2):c.835C>T (p.Leu279=) rs373897662 0.00004
NM_001365999.1(SZT2):c.8840G>A (p.Arg2947Gln) rs147484328 0.00004
NM_001365999.1(SZT2):c.8848G>A (p.Ala2950Thr) rs149514994 0.00004
NM_001365999.1(SZT2):c.8947C>T (p.Leu2983=) rs752431707 0.00004
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val) rs371736872 0.00004
NM_001365999.1(SZT2):c.9880C>T (p.Arg3294Trp) rs199787819 0.00004
NM_001365999.1(SZT2):c.10239C>T (p.Tyr3413=) rs757144339 0.00003
NM_001365999.1(SZT2):c.1396G>A (p.Gly466Ser) rs749086217 0.00003
NM_001365999.1(SZT2):c.1584C>T (p.Ser528=) rs373399099 0.00003
NM_001365999.1(SZT2):c.1943A>G (p.Asn648Ser) rs747108004 0.00003
NM_001365999.1(SZT2):c.2074C>T (p.Arg692Cys) rs1249245614 0.00003
NM_001365999.1(SZT2):c.2824C>T (p.Arg942Trp) rs773789668 0.00003
NM_001365999.1(SZT2):c.2930-5C>T rs548527248 0.00003
NM_001365999.1(SZT2):c.3657C>T (p.Tyr1219=) rs111604978 0.00003
NM_001365999.1(SZT2):c.3690G>A (p.Ala1230=) rs1041324146 0.00003
NM_001365999.1(SZT2):c.3755A>C (p.Gln1252Pro) rs750743832 0.00003
NM_001365999.1(SZT2):c.4113C>G (p.Ser1371Arg) rs1001442150 0.00003
NM_001365999.1(SZT2):c.4225C>T (p.Pro1409Ser) rs377512674 0.00003
NM_001365999.1(SZT2):c.4710G>A (p.Thr1570=) rs375889333 0.00003
NM_001365999.1(SZT2):c.4805C>G (p.Pro1602Arg) rs568068900 0.00003
NM_001365999.1(SZT2):c.5330G>A (p.Gly1777Asp) rs370796220 0.00003
NM_001365999.1(SZT2):c.5645A>G (p.Asn1882Ser) rs573213368 0.00003
NM_001365999.1(SZT2):c.5825G>A (p.Gly1942Glu) rs749617609 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001365999.1(SZT2):c.5876T>C (p.Val1959Ala) rs141053867 0.00003
NM_001365999.1(SZT2):c.6060G>A (p.Ala2020=) rs141635115 0.00003
NM_001365999.1(SZT2):c.6065G>A (p.Arg2022His) rs751985872 0.00003
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) rs746338306 0.00003
NM_001365999.1(SZT2):c.7317G>A (p.Ala2439=) rs372293082 0.00003
NM_001365999.1(SZT2):c.7322G>A (p.Arg2441Gln) rs200753719 0.00003
NM_001365999.1(SZT2):c.7478C>T (p.Ala2493Val) rs779826702 0.00003
NM_001365999.1(SZT2):c.7816C>T (p.Arg2606Trp) rs754730352 0.00003
NM_001365999.1(SZT2):c.7873+5G>A rs374303767 0.00003
NM_001365999.1(SZT2):c.8428C>T (p.Arg2810Cys) rs769123289 0.00003
NM_001365999.1(SZT2):c.8930C>T (p.Pro2977Leu) rs761830930 0.00003
NM_001365999.1(SZT2):c.952A>G (p.Met318Val) rs972539312 0.00003
NM_001365999.1(SZT2):c.9632G>A (p.Arg3211His) rs374492072 0.00003
NM_001365999.1(SZT2):c.9781C>T (p.Arg3261Trp) rs757417546 0.00003
NM_001365999.1(SZT2):c.992C>T (p.Pro331Leu) rs368059626 0.00003
NM_001365999.1(SZT2):c.10288C>T (p.Arg3430Cys) rs750291489 0.00002
NM_001365999.1(SZT2):c.1102C>T (p.Arg368Cys) rs753741740 0.00002
NM_001365999.1(SZT2):c.2545A>G (p.Ile849Val) rs749314293 0.00002
NM_001365999.1(SZT2):c.2579A>C (p.Glu860Ala) rs1375272994 0.00002
NM_001365999.1(SZT2):c.2775G>A (p.Lys925=) rs1055395161 0.00002
NM_001365999.1(SZT2):c.3743C>T (p.Ala1248Val) rs752303066 0.00002
NM_001365999.1(SZT2):c.379C>T (p.Arg127Cys) rs150074610 0.00002
NM_001365999.1(SZT2):c.3851C>T (p.Pro1284Leu) rs1228879995 0.00002
NM_001365999.1(SZT2):c.3978G>A (p.Ala1326=) rs768548993 0.00002
NM_001365999.1(SZT2):c.4080T>C (p.Pro1360=) rs775980814 0.00002
NM_001365999.1(SZT2):c.4921A>G (p.Thr1641Ala) rs528738374 0.00002
NM_001365999.1(SZT2):c.4993G>A (p.Gly1665Arg) rs892465059 0.00002
NM_001365999.1(SZT2):c.5284C>T (p.Arg1762Cys) rs141456660 0.00002
NM_001365999.1(SZT2):c.5391G>A (p.Ala1797=) rs752230870 0.00002
NM_001365999.1(SZT2):c.559T>C (p.Tyr187His) rs970588679 0.00002
NM_001365999.1(SZT2):c.5764C>T (p.Arg1922Trp) rs765644938 0.00002
NM_001365999.1(SZT2):c.5803C>T (p.Arg1935Trp) rs745371792 0.00002
NM_001365999.1(SZT2):c.5832G>A (p.Pro1944=) rs759851058 0.00002
NM_001365999.1(SZT2):c.6420G>A (p.Met2140Ile) rs747463004 0.00002
NM_001365999.1(SZT2):c.6666G>C (p.Leu2222=) rs142775911 0.00002
NM_001365999.1(SZT2):c.7013G>A (p.Arg2338His) rs777078813 0.00002
NM_001365999.1(SZT2):c.7230G>A (p.Ser2410=) rs754459485 0.00002
NM_001365999.1(SZT2):c.7267T>C (p.Phe2423Leu) rs755853594 0.00002
NM_001365999.1(SZT2):c.7669A>G (p.Ile2557Val) rs112994383 0.00002
NM_001365999.1(SZT2):c.7708G>A (p.Gly2570Arg) rs563782968 0.00002
NM_001365999.1(SZT2):c.7817G>A (p.Arg2606Gln) rs780973584 0.00002
NM_001365999.1(SZT2):c.7957G>C (p.Glu2653Gln) rs757185806 0.00002
NM_001365999.1(SZT2):c.8459C>T (p.Thr2820Ile) rs776178283 0.00002
NM_001365999.1(SZT2):c.8500-6C>A rs376269256 0.00002
NM_001365999.1(SZT2):c.8568C>T (p.Phe2856=) rs760466085 0.00002
NM_001365999.1(SZT2):c.8630G>A (p.Arg2877His) rs923505488 0.00002
NM_001365999.1(SZT2):c.8818G>A (p.Ala2940Thr) rs199778444 0.00002
NM_001365999.1(SZT2):c.8822G>A (p.Arg2941His) rs202113628 0.00002
NM_001365999.1(SZT2):c.9072+4T>C rs770944819 0.00002
NM_001365999.1(SZT2):c.9638G>A (p.Arg3213Gln) rs763529490 0.00002
NM_001365999.1(SZT2):c.9727G>A (p.Gly3243Arg) rs770750697 0.00002
NM_001365999.1(SZT2):c.1007T>G (p.Leu336Arg) rs766418139 0.00001
NM_001365999.1(SZT2):c.1039C>T (p.Leu347Phe) rs377503040 0.00001
NM_001365999.1(SZT2):c.1261+4A>G rs1300743804 0.00001
NM_001365999.1(SZT2):c.1302A>G (p.Lys434=) rs1420992888 0.00001
NM_001365999.1(SZT2):c.1385C>T (p.Thr462Met) rs748435936 0.00001
NM_001365999.1(SZT2):c.2038-5C>T rs558436556 0.00001
NM_001365999.1(SZT2):c.2069G>A (p.Arg690Gln) rs751741065 0.00001
NM_001365999.1(SZT2):c.2206C>T (p.Arg736Trp) rs890611597 0.00001
NM_001365999.1(SZT2):c.2427G>A (p.Ala809=) rs761742264 0.00001
NM_001365999.1(SZT2):c.2477G>A (p.Arg826Gln) rs752495437 0.00001
NM_001365999.1(SZT2):c.253A>T (p.Thr85Ser) rs763499985 0.00001
NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) rs768015377 0.00001
NM_001365999.1(SZT2):c.2646-3T>C rs779987144 0.00001
NM_001365999.1(SZT2):c.284G>A (p.Arg95Gln) rs975533309 0.00001
NM_001365999.1(SZT2):c.297G>A (p.Glu99=) rs749244836 0.00001
NM_001365999.1(SZT2):c.3700C>T (p.Arg1234Trp) rs776754646 0.00001
NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val) rs200635457 0.00001
NM_001365999.1(SZT2):c.4049C>T (p.Thr1350Ile) rs754803316 0.00001
NM_001365999.1(SZT2):c.4691C>T (p.Pro1564Leu) rs1329340929 0.00001
NM_001365999.1(SZT2):c.479T>C (p.Ile160Thr) rs776845092 0.00001
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) rs745970630 0.00001
NM_001365999.1(SZT2):c.5072A>C (p.Glu1691Ala) rs772997069 0.00001
NM_001365999.1(SZT2):c.5092C>T (p.Arg1698Cys) rs765555116 0.00001
NM_001365999.1(SZT2):c.527C>G (p.Pro176Arg) rs758767291 0.00001
NM_001365999.1(SZT2):c.5552G>A (p.Arg1851Gln) rs778064948 0.00001
NM_001365999.1(SZT2):c.5804G>A (p.Arg1935Gln) rs771676834 0.00001
NM_001365999.1(SZT2):c.5831C>T (p.Pro1944Leu) rs754585816 0.00001
NM_001365999.1(SZT2):c.6084A>C (p.Thr2028=) rs1366420391 0.00001
NM_001365999.1(SZT2):c.6574G>A (p.Val2192Ile) rs373419730 0.00001
NM_001365999.1(SZT2):c.6592G>C (p.Val2198Leu) rs746050802 0.00001
NM_001365999.1(SZT2):c.671G>A (p.Arg224Gln) rs541591330 0.00001
NM_001365999.1(SZT2):c.6916G>C (p.Gly2306Arg) rs200675254 0.00001
NM_001365999.1(SZT2):c.7036T>C (p.Ser2346Pro) rs749374596 0.00001
NM_001365999.1(SZT2):c.7238C>G (p.Thr2413Ser) rs762235124 0.00001
NM_001365999.1(SZT2):c.7373C>G (p.Ser2458Cys) rs371109647 0.00001
NM_001365999.1(SZT2):c.7389T>C (p.Asp2463=) rs778123763 0.00001
NM_001365999.1(SZT2):c.7681T>C (p.Phe2561Leu) rs148506515 0.00001
NM_001365999.1(SZT2):c.7759A>C (p.Ile2587Leu) rs567627025 0.00001
NM_001365999.1(SZT2):c.780C>T (p.Ile260=) rs375794037 0.00001
NM_001365999.1(SZT2):c.7874-5T>C rs778766516 0.00001
NM_001365999.1(SZT2):c.7896C>T (p.Phe2632=) rs773642457 0.00001
NM_001365999.1(SZT2):c.8125T>C (p.Leu2709=) rs761871479 0.00001
NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met) rs773129616 0.00001
NM_001365999.1(SZT2):c.8141G>A (p.Arg2714Gln) rs192016258 0.00001
NM_001365999.1(SZT2):c.8197A>G (p.Ile2733Val) rs748208436 0.00001
NM_001365999.1(SZT2):c.8225G>A (p.Arg2742His) rs763615703 0.00001
NM_001365999.1(SZT2):c.8335G>A (p.Val2779Ile) rs768028898 0.00001
NM_001365999.1(SZT2):c.8413C>T (p.Arg2805Cys) rs768283714 0.00001
NM_001365999.1(SZT2):c.8430C>T (p.Arg2810=) rs377123278 0.00001
NM_001365999.1(SZT2):c.8606C>T (p.Ser2869Phe) rs372395617 0.00001
NM_001365999.1(SZT2):c.8782G>A (p.Gly2928Ser) rs765828066 0.00001
NM_001365999.1(SZT2):c.8797C>G (p.Pro2933Ala) rs758835465 0.00001
NM_001365999.1(SZT2):c.898T>C (p.Tyr300His) rs754738706 0.00001
NM_001365999.1(SZT2):c.9110G>A (p.Arg3037Gln) rs199743574 0.00001
NM_001365999.1(SZT2):c.9330A>G (p.Leu3110=) rs749144612 0.00001
NM_001365999.1(SZT2):c.9473G>A (p.Arg3158Gln) rs200187525 0.00001
NM_001365999.1(SZT2):c.9573C>G (p.Phe3191Leu) rs752229528 0.00001
NM_001365999.1(SZT2):c.9800G>A (p.Arg3267Gln) rs558634467 0.00001
NM_001365999.1(SZT2):c.9947T>C (p.Ile3316Thr) rs375728143 0.00001
NM_001365999.1(SZT2):c.10002C>T (p.Tyr3334=)
NM_001365999.1(SZT2):c.1003A>C (p.Asn335His)
NM_001365999.1(SZT2):c.10159C>G (p.Leu3387Val)
NM_001365999.1(SZT2):c.10216C>A (p.Pro3406Thr)
NM_001365999.1(SZT2):c.10262A>G (p.Asn3421Ser) rs1458905925
NM_001365999.1(SZT2):c.1057A>G (p.Ser353Gly)
NM_001365999.1(SZT2):c.1060G>T (p.Gly354Trp) rs1557539813
NM_001365999.1(SZT2):c.1086C>T (p.Tyr362=)
NM_001365999.1(SZT2):c.1241G>A (p.Arg414Gln)
NM_001365999.1(SZT2):c.1241G>T (p.Arg414Leu) rs757989403
NM_001365999.1(SZT2):c.1475G>A (p.Arg492His) rs755403943
NM_001365999.1(SZT2):c.1583G>A (p.Ser528Asn)
NM_001365999.1(SZT2):c.1802G>A (p.Ser601Asn)
NM_001365999.1(SZT2):c.2170C>T (p.Pro724Ser) rs752789547
NM_001365999.1(SZT2):c.2178G>A (p.Val726=)
NM_001365999.1(SZT2):c.2192A>C (p.Gln731Pro) rs1400348138
NM_001365999.1(SZT2):c.2208G>T (p.Arg736=) rs904037938
NM_001365999.1(SZT2):c.2282G>A (p.Arg761Gln) rs759765444
NM_001365999.1(SZT2):c.2288C>T (p.Pro763Leu)
NM_001365999.1(SZT2):c.2310A>G (p.Pro770=)
NM_001365999.1(SZT2):c.2315G>A (p.Gly772Asp) rs1557550662
NM_001365999.1(SZT2):c.2353A>T (p.Ser785Cys)
NM_001365999.1(SZT2):c.2356C>T (p.Leu786=) rs878855007
NM_001365999.1(SZT2):c.2412A>C (p.Ser804=) rs2153932904
NM_001365999.1(SZT2):c.2435_2436del (p.Leu812fs) rs1652887200
NM_001365999.1(SZT2):c.2472-5T>C
NM_001365999.1(SZT2):c.2550+5G>A rs41270349
NM_001365999.1(SZT2):c.2550+5G>T rs41270349
NM_001365999.1(SZT2):c.256C>A (p.Arg86=)
NM_001365999.1(SZT2):c.2572G>T (p.Ala858Ser)
NM_001365999.1(SZT2):c.259G>A (p.Val87Ile)
NM_001365999.1(SZT2):c.2621dup (p.His875fs)
NM_001365999.1(SZT2):c.2660A>G (p.Asp887Gly)
NM_001365999.1(SZT2):c.2747G>A (p.Arg916Gln) rs572909512
NM_001365999.1(SZT2):c.2807C>G (p.Pro936Arg) rs756184903
NM_001365999.1(SZT2):c.2807C>T (p.Pro936Leu)
NM_001365999.1(SZT2):c.2817C>A (p.Leu939=)
NM_001365999.1(SZT2):c.2824C>G (p.Arg942Gly)
NM_001365999.1(SZT2):c.2995C>T (p.Leu999=)
NM_001365999.1(SZT2):c.3297T>C (p.Ala1099=) rs1557557255
NM_001365999.1(SZT2):c.3345C>T (p.Ile1115=) rs775988619
NM_001365999.1(SZT2):c.3374A>G (p.Tyr1125Cys) rs372604291
NM_001365999.1(SZT2):c.3433G>A (p.Asp1145Asn)
NM_001365999.1(SZT2):c.3443G>T (p.Arg1148Leu)
NM_001365999.1(SZT2):c.3501G>A (p.Gly1167=)
NM_001365999.1(SZT2):c.3530A>G (p.Asp1177Gly) rs1653287379
NM_001365999.1(SZT2):c.3581G>A (p.Ser1194Asn) rs774726886
NM_001365999.1(SZT2):c.3755A>G (p.Gln1252Arg)
NM_001365999.1(SZT2):c.3764G>C (p.Gly1255Ala)
NM_001365999.1(SZT2):c.400C>T (p.Arg134Trp) rs1409830966
NM_001365999.1(SZT2):c.4021C>G (p.Pro1341Ala)
NM_001365999.1(SZT2):c.4067C>T (p.Ala1356Val)
NM_001365999.1(SZT2):c.4084C>T (p.Pro1362Ser)
NM_001365999.1(SZT2):c.4142G>A (p.Arg1381Gln)
NM_001365999.1(SZT2):c.4249_4250del (p.Leu1417fs)
NM_001365999.1(SZT2):c.4258G>A (p.Val1420Ile)
NM_001365999.1(SZT2):c.4324A>C (p.Ile1442Leu)
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_001365999.1(SZT2):c.4355C>T (p.Ser1452Phe)
NM_001365999.1(SZT2):c.4525C>T (p.Leu1509=) rs1557566670
NM_001365999.1(SZT2):c.4561C>T (p.Leu1521=)
NM_001365999.1(SZT2):c.4571C>A (p.Ala1524Asp)
NM_001365999.1(SZT2):c.4575G>T (p.Gly1525=)
NM_001365999.1(SZT2):c.4607C>G (p.Thr1536Ser)
NM_001365999.1(SZT2):c.4642G>T (p.Gly1548Trp) rs201357769
NM_001365999.1(SZT2):c.4692G>A (p.Pro1564=)
NM_001365999.1(SZT2):c.475A>T (p.Ile159Phe)
NM_001365999.1(SZT2):c.4765A>C (p.Thr1589Pro) rs1348292126
NM_001365999.1(SZT2):c.4804C>A (p.Pro1602Thr)
NM_001365999.1(SZT2):c.4817G>A (p.Arg1606Gln)
NM_001365999.1(SZT2):c.4834C>T (p.Leu1612Phe)
NM_001365999.1(SZT2):c.4844C>T (p.Thr1615Ile)
NM_001365999.1(SZT2):c.4995G>T (p.Gly1665=) rs1653847013
NM_001365999.1(SZT2):c.5009C>G (p.Pro1670Arg) rs768416733
NM_001365999.1(SZT2):c.5075C>A (p.Thr1692Asn) rs149831634
NM_001365999.1(SZT2):c.5089-4_5089-3del rs762645558
NM_001365999.1(SZT2):c.5113del (p.Met1705fs)
NM_001365999.1(SZT2):c.520T>C (p.Leu174=)
NM_001365999.1(SZT2):c.5230A>C (p.Ser1744Arg)
NM_001365999.1(SZT2):c.5331CTT[2] (p.Phe1780del) rs759444473
NM_001365999.1(SZT2):c.5345C>A (p.Ala1782Glu)
NM_001365999.1(SZT2):c.5503A>T (p.Ile1835Phe)
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.5518G>C (p.Val1840Leu)
NM_001365999.1(SZT2):c.5666C>A (p.Ala1889Asp)
NM_001365999.1(SZT2):c.5666C>G (p.Ala1889Gly) rs772792017
NM_001365999.1(SZT2):c.5669C>T (p.Pro1890Leu)
NM_001365999.1(SZT2):c.5687C>T (p.Pro1896Leu)
NM_001365999.1(SZT2):c.5701C>T (p.Pro1901Ser) rs2153934290
NM_001365999.1(SZT2):c.5746G>A (p.Asp1916Asn)
NM_001365999.1(SZT2):c.5766G>C (p.Arg1922=) rs760518748
NM_001365999.1(SZT2):c.5799T>G (p.His1933Gln)
NM_001365999.1(SZT2):c.5803C>A (p.Arg1935=)
NM_001365999.1(SZT2):c.5812A>G (p.Ile1938Val)
NM_001365999.1(SZT2):c.5887T>G (p.Cys1963Gly)
NM_001365999.1(SZT2):c.5970AGA[1] (p.Glu1991del)
NM_001365999.1(SZT2):c.5984G>A (p.Arg1995His)
NM_001365999.1(SZT2):c.598A>G (p.Met200Val)
NM_001365999.1(SZT2):c.6008G>A (p.Arg2003His) rs769784174
NM_001365999.1(SZT2):c.6013C>T (p.Arg2005Trp)
NM_001365999.1(SZT2):c.6024G>A (p.Leu2008=)
NM_001365999.1(SZT2):c.6030T>C (p.Ser2010=)
NM_001365999.1(SZT2):c.6038A>G (p.Tyr2013Cys) rs760231088
NM_001365999.1(SZT2):c.603G>A (p.Leu201=) rs1557531678
NM_001365999.1(SZT2):c.610C>G (p.Gln204Glu)
NM_001365999.1(SZT2):c.612G>C (p.Gln204His)
NM_001365999.1(SZT2):c.625A>G (p.Ser209Gly)
NM_001365999.1(SZT2):c.6290+6T>G rs1570696130
NM_001365999.1(SZT2):c.6392C>G (p.Ala2131Gly)
NM_001365999.1(SZT2):c.6410C>T (p.Pro2137Leu)
NM_001365999.1(SZT2):c.6459C>T (p.Gly2153=)
NM_001365999.1(SZT2):c.6500G>T (p.Gly2167Val)
NM_001365999.1(SZT2):c.670C>G (p.Arg224Gly) rs930525688
NM_001365999.1(SZT2):c.6737T>C (p.Leu2246Pro) rs1654766541
NM_001365999.1(SZT2):c.675G>A (p.Lys225=) rs564963914
NM_001365999.1(SZT2):c.6791A>C (p.Gln2264Pro)
NM_001365999.1(SZT2):c.6793-4C>G rs902637144
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=) rs375793150
NM_001365999.1(SZT2):c.7037C>G (p.Ser2346Cys) rs771174830
NM_001365999.1(SZT2):c.7136G>A (p.Arg2379His) rs1204610877
NM_001365999.1(SZT2):c.7213A>G (p.Ser2405Gly)
NM_001365999.1(SZT2):c.7230G>T (p.Ser2410=) rs754459485
NM_001365999.1(SZT2):c.7244G>A (p.Ser2415Asn)
NM_001365999.1(SZT2):c.7352C>T (p.Thr2451Ile)
NM_001365999.1(SZT2):c.7368G>C (p.Leu2456Phe)
NM_001365999.1(SZT2):c.7395T>G (p.Ile2465Met) rs78858677
NM_001365999.1(SZT2):c.7446G>A (p.Glu2482=) rs979339741
NM_001365999.1(SZT2):c.7466_7467delinsTT (p.Gly2489Val)
NM_001365999.1(SZT2):c.7607T>C (p.Ile2536Thr)
NM_001365999.1(SZT2):c.7615G>A (p.Ala2539Thr)
NM_001365999.1(SZT2):c.7652G>A (p.Arg2551Gln)
NM_001365999.1(SZT2):c.7693G>T (p.Val2565Phe)
NM_001365999.1(SZT2):c.7704G>A (p.Met2568Ile)
NM_001365999.1(SZT2):c.7724G>T (p.Arg2575Leu) rs147818016
NM_001365999.1(SZT2):c.7763T>A (p.Phe2588Tyr)
NM_001365999.1(SZT2):c.778A>G (p.Ile260Val)
NM_001365999.1(SZT2):c.7811C>T (p.Ala2604Val)
NM_001365999.1(SZT2):c.7948T>C (p.Leu2650=)
NM_001365999.1(SZT2):c.8027G>A (p.Arg2676Gln) rs758138686
NM_001365999.1(SZT2):c.8062C>T (p.Arg2688Ter) rs1394131270
NM_001365999.1(SZT2):c.8179A>G (p.Met2727Val) rs755144394
NM_001365999.1(SZT2):c.8200C>T (p.Arg2734Trp)
NM_001365999.1(SZT2):c.8212C>T (p.Pro2738Ser)
NM_001365999.1(SZT2):c.8326C>T (p.Pro2776Ser)
NM_001365999.1(SZT2):c.8392C>G (p.Leu2798Val)
NM_001365999.1(SZT2):c.847C>T (p.Arg283Cys) rs1557534581
NM_001365999.1(SZT2):c.8500-4C>T rs1457354824
NM_001365999.1(SZT2):c.8533C>T (p.Arg2845Cys)
NM_001365999.1(SZT2):c.8552C>T (p.Ala2851Val)
NM_001365999.1(SZT2):c.8593C>T (p.Pro2865Ser) rs146439294
NM_001365999.1(SZT2):c.8594C>G (p.Pro2865Arg) rs374031590
NM_001365999.1(SZT2):c.8594C>T (p.Pro2865Leu) rs374031590
NM_001365999.1(SZT2):c.8678G>A (p.Cys2893Tyr) rs1655337972
NM_001365999.1(SZT2):c.8711G>A (p.Arg2904His) rs769574689
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001365999.1(SZT2):c.8930C>A (p.Pro2977Gln) rs761830930
NM_001365999.1(SZT2):c.9002G>C (p.Cys3001Ser)
NM_001365999.1(SZT2):c.9021G>C (p.Gln3007His)
NM_001365999.1(SZT2):c.9053G>A (p.Gly3018Glu)
NM_001365999.1(SZT2):c.9131C>T (p.Ser3044Leu)
NM_001365999.1(SZT2):c.9409_9411del (p.Asn3137del) rs1655841167
NM_001365999.1(SZT2):c.9426G>A (p.Val3142=) rs1328052292
NM_001365999.1(SZT2):c.9460T>C (p.Ser3154Pro) rs1271549438
NM_001365999.1(SZT2):c.9480G>C (p.Gln3160His)
NM_001365999.1(SZT2):c.9523C>G (p.Pro3175Ala) rs772312797
NM_001365999.1(SZT2):c.9562C>G (p.Arg3188Gly)
NM_001365999.1(SZT2):c.9569A>G (p.Gln3190Arg)
NM_001365999.1(SZT2):c.9577G>C (p.Val3193Leu) rs779432358
NM_001365999.1(SZT2):c.9653T>C (p.Leu3218Pro)
NM_001365999.1(SZT2):c.9665C>T (p.Pro3222Leu) rs531733494
NM_001365999.1(SZT2):c.9722C>A (p.Ala3241Glu)
NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp) rs538720577
NM_001365999.1(SZT2):c.9863C>T (p.Pro3288Leu)
NM_001365999.1(SZT2):c.9881G>A (p.Arg3294Gln)
NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=) rs534948696
NM_001365999.1(SZT2):c.9910C>T (p.Leu3304=)
NM_001365999.1(SZT2):c.9929C>T (p.Ala3310Val)
NM_001365999.1(SZT2):c.9931G>A (p.Val3311Ile)
NM_001365999.1(SZT2):c.9931G>T (p.Val3311Phe) rs1557606189
NM_001365999.1(SZT2):c.9974G>T (p.Cys3325Phe)
NM_001365999.1(SZT2):c.9978C>T (p.Phe3326=)

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