ClinVar Miner

List of variants in gene SZT2 reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) rs143935839 0.00119
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) rs139027171 0.00093
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) rs147309177 0.00073
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.6077C>A (p.Ala2026Glu) rs140427193 0.00039
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.2774A>T (p.Lys925Met) rs146937951 0.00033
NM_001365999.1(SZT2):c.4210C>T (p.Arg1404Cys) rs150269825 0.00033
NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser) rs144139818 0.00031
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg) rs144176855 0.00025
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.368A>G (p.His123Arg) rs147519875 0.00021
NM_001365999.1(SZT2):c.3368G>A (p.Arg1123His) rs138477355 0.00019
NM_001365999.1(SZT2):c.5813T>C (p.Ile1938Thr) rs139028174 0.00017
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.4480+4T>C rs377184977 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.9260A>G (p.His3087Arg) rs758905735 0.00013
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.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.4892C>T (p.Thr1631Met) rs201312287 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.1312C>T (p.Arg438Cys) rs373013502 0.00008
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys) rs143185010 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.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.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.7802G>A (p.Arg2601His) rs757425191 0.00006
NM_001365999.1(SZT2):c.7900C>G (p.Pro2634Ala) rs763289414 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.7019C>T (p.Pro2340Leu) rs199939601 0.00005
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.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.8840G>A (p.Arg2947Gln) rs147484328 0.00004
NM_001365999.1(SZT2):c.8848G>A (p.Ala2950Thr) rs149514994 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.1396G>A (p.Gly466Ser) rs749086217 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.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.4805C>G (p.Pro1602Arg) rs568068900 0.00003
NM_001365999.1(SZT2):c.5330G>A (p.Gly1777Asp) rs370796220 0.00003
NM_001365999.1(SZT2):c.5825G>A (p.Gly1942Glu) rs749617609 0.00003
NM_001365999.1(SZT2):c.5876T>C (p.Val1959Ala) rs141053867 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.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.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.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.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.6420G>A (p.Met2140Ile) rs747463004 0.00002
NM_001365999.1(SZT2):c.7013G>A (p.Arg2338His) rs777078813 0.00002
NM_001365999.1(SZT2):c.7267T>C (p.Phe2423Leu) rs755853594 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.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.1385C>T (p.Thr462Met) rs748435936 0.00001
NM_001365999.1(SZT2):c.2038-5C>T rs558436556 0.00001
NM_001365999.1(SZT2):c.2206C>T (p.Arg736Trp) rs890611597 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.3700C>T (p.Arg1234Trp) rs776754646 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.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.7681T>C (p.Phe2561Leu) rs148506515 0.00001
NM_001365999.1(SZT2):c.7759A>C (p.Ile2587Leu) rs567627025 0.00001
NM_001365999.1(SZT2):c.7874-5T>C rs778766516 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.8413C>T (p.Arg2805Cys) rs768283714 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.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.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.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.2192A>C (p.Gln731Pro) rs1400348138
NM_001365999.1(SZT2):c.2282G>A (p.Arg761Gln) rs759765444
NM_001365999.1(SZT2):c.2288C>T (p.Pro763Leu)
NM_001365999.1(SZT2):c.2315G>A (p.Gly772Asp) rs1557550662
NM_001365999.1(SZT2):c.2353A>T (p.Ser785Cys)
NM_001365999.1(SZT2):c.2572G>T (p.Ala858Ser)
NM_001365999.1(SZT2):c.259G>A (p.Val87Ile)
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.2824C>G (p.Arg942Gly)
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.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.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.4571C>A (p.Ala1524Asp)
NM_001365999.1(SZT2):c.4607C>G (p.Thr1536Ser)
NM_001365999.1(SZT2):c.4642G>T (p.Gly1548Trp) rs201357769
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.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.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.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.5799T>G (p.His1933Gln)
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.6038A>G (p.Tyr2013Cys) rs760231088
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.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.6791A>C (p.Gln2264Pro)
NM_001365999.1(SZT2):c.6793-4C>G rs902637144
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.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.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.8027G>A (p.Arg2676Gln) rs758138686
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.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.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.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)

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