ClinVar Miner

List of variants in gene SZT2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
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.8499+8A>C rs182225944 0.00297
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.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.2955C>T (p.Cys985=) rs151189395 0.00113
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.8702C>T (p.Pro2901Leu) rs139027171 0.00093
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.1488G>A (p.Thr496=) rs370045267 0.00064
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.9828C>T (p.Asp3276=) rs12756587 0.00046
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) rs140427193 0.00039
NM_001365999.1(SZT2):c.6582A>G (p.Thr2194=) rs145802078 0.00038
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) rs138028425 0.00034
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.8148A>G (p.Glu2716=) rs199826167 0.00023
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.4647C>T (p.Gly1549=) rs149192929 0.00019
NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=) rs373992628 0.00016
NM_001365999.1(SZT2):c.8316G>A (p.Thr2772=) rs532810601 0.00016
NM_001365999.1(SZT2):c.9286+5G>A rs367775055 0.00015
NM_001365999.1(SZT2):c.2034C>T (p.His678=) rs201529142 0.00014
NM_001365999.1(SZT2):c.3638G>A (p.Arg1213His) rs187427261 0.00014
NM_001365999.1(SZT2):c.4524G>A (p.Glu1508=) rs146416049 0.00014
NM_001365999.1(SZT2):c.6961C>T (p.Pro2321Ser) rs776699964 0.00014
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.7671C>T (p.Ile2557=) rs201311847 0.00012
NM_001365999.1(SZT2):c.5390C>T (p.Ala1797Val) rs201307513 0.00011
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=) rs187188981 0.00011
NM_001365999.1(SZT2):c.5910G>C (p.Leu1970=) rs151260299 0.00011
NM_001365999.1(SZT2):c.5142C>T (p.Ile1714=) rs756050426 0.00009
NM_001365999.1(SZT2):c.8295C>T (p.Asp2765=) rs181686875 0.00009
NM_001365999.1(SZT2):c.4188C>T (p.Ser1396=) rs138401303 0.00008
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys) rs143185010 0.00008
NM_001365999.1(SZT2):c.3489G>A (p.Lys1163=) rs149793909 0.00007
NM_001365999.1(SZT2):c.5680C>T (p.Arg1894Trp) rs761963698 0.00007
NM_001365999.1(SZT2):c.3306C>T (p.Ser1102=) rs370803181 0.00006
NM_001365999.1(SZT2):c.390C>T (p.Gly130=) rs187131803 0.00006
NM_001365999.1(SZT2):c.7802G>A (p.Arg2601His) rs757425191 0.00006
NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=) rs201027552 0.00006
NM_001365999.1(SZT2):c.1797G>A (p.Pro599=) rs748420169 0.00005
NM_001365999.1(SZT2):c.3823C>G (p.Pro1275Ala) rs200612162 0.00005
NM_001365999.1(SZT2):c.4414C>T (p.Arg1472Trp) rs775105626 0.00005
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180 0.00004
NM_001365999.1(SZT2):c.2500G>A (p.Ala834Thr) rs753359197 0.00004
NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala) rs137956992 0.00004
NM_001365999.1(SZT2):c.4356C>T (p.Ser1452=) rs200813502 0.00004
NM_001365999.1(SZT2):c.4716C>T (p.Ser1572=) rs147043685 0.00004
NM_001365999.1(SZT2):c.4720C>T (p.Arg1574Trp) rs79351309 0.00004
NM_001365999.1(SZT2):c.6936G>A (p.Ala2312=) rs192791002 0.00004
NM_001365999.1(SZT2):c.816T>G (p.Val272=) rs370390171 0.00004
NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=) rs149672814 0.00004
NM_001365999.1(SZT2):c.2169A>T (p.Ser723=) rs1327247768 0.00003
NM_001365999.1(SZT2):c.3657C>T (p.Tyr1219=) rs111604978 0.00003
NM_001365999.1(SZT2):c.429C>T (p.Ile143=) rs1209373381 0.00003
NM_001365999.1(SZT2):c.4419C>T (p.Asp1473=) rs377200944 0.00003
NM_001365999.1(SZT2):c.6060G>A (p.Ala2020=) rs141635115 0.00003
NM_001365999.1(SZT2):c.7317G>A (p.Ala2439=) rs372293082 0.00003
NM_001365999.1(SZT2):c.74G>A (p.Arg25Gln) rs760528024 0.00003
NM_001365999.1(SZT2):c.7816C>T (p.Arg2606Trp) rs754730352 0.00003
NM_001365999.1(SZT2):c.4309-3C>T rs376401769 0.00002
NM_001365999.1(SZT2):c.5832G>A (p.Pro1944=) rs759851058 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.1738C>G (p.His580Asp) rs780965558 0.00001
NM_001365999.1(SZT2):c.1765G>T (p.Asp589Tyr) rs1169459726 0.00001
NM_001365999.1(SZT2):c.2220G>A (p.Val740=) rs576623885 0.00001
NM_001365999.1(SZT2):c.2468C>T (p.Thr823Ile) rs766349361 0.00001
NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val) rs200635457 0.00001
NM_001365999.1(SZT2):c.5679G>A (p.Leu1893=) rs375332518 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001365999.1(SZT2):c.7033A>G (p.Ser2345Gly) rs182184747 0.00001
NM_001365999.1(SZT2):c.8280C>T (p.Asp2760=) rs1186640842 0.00001
NM_001365999.1(SZT2):c.8479C>T (p.Pro2827Ser) rs762098815 0.00001
NM_001365999.1(SZT2):c.8669C>T (p.Pro2890Leu) rs757574042 0.00001
NM_001365999.1(SZT2):c.9486C>T (p.Asp3162=) rs749826900 0.00001
NM_001365999.1(SZT2):c.1488G>T (p.Thr496=) rs370045267
NM_001365999.1(SZT2):c.1915C>A (p.Leu639Ile)
NM_001365999.1(SZT2):c.2135G>A (p.Gly712Glu) rs1219555045
NM_001365999.1(SZT2):c.2220G>T (p.Val740=)
NM_001365999.1(SZT2):c.2355C>T (p.Ser785=)
NM_001365999.1(SZT2):c.2471+8A>T rs754795755
NM_001365999.1(SZT2):c.2932T>C (p.Leu978=) rs1064797110
NM_001365999.1(SZT2):c.3215-5T>C rs771760450
NM_001365999.1(SZT2):c.3916C>G (p.Arg1306Gly) rs760099699
NM_001365999.1(SZT2):c.4191G>A (p.Glu1397=)
NM_001365999.1(SZT2):c.4362C>T (p.Pro1454=)
NM_001365999.1(SZT2):c.4511A>C (p.Glu1504Ala) rs1570668157
NM_001365999.1(SZT2):c.498+1744C>T
NM_001365999.1(SZT2):c.5379G>A (p.Glu1793=) rs765099450
NM_001365999.1(SZT2):c.5526G>A (p.Gln1842=) rs2153934210
NM_001365999.1(SZT2):c.5652C>A (p.Thr1884=)
NM_001365999.1(SZT2):c.5687C>T (p.Pro1896Leu)
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6331G>A (p.Asp2111Asn) rs2153935054
NM_001365999.1(SZT2):c.651C>T (p.Asp217=)
NM_001365999.1(SZT2):c.7270C>G (p.Pro2424Ala) rs748903787
NM_001365999.1(SZT2):c.7446G>A (p.Glu2482=) rs979339741
NM_001365999.1(SZT2):c.750dup (p.Leu251fs) rs1651685926
NM_001365999.1(SZT2):c.7765G>A (p.Gly2589Ser) rs780094265
NM_001365999.1(SZT2):c.7866A>C (p.Thr2622=)
NM_001365999.1(SZT2):c.789G>A (p.Thr263=)
NM_001365999.1(SZT2):c.8151+8C>A
NM_001365999.1(SZT2):c.8711G>A (p.Arg2904His) rs769574689
NM_001365999.1(SZT2):c.8718G>A (p.Glu2906=)
NM_001365999.1(SZT2):c.8752C>T (p.Gln2918Ter)
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)
NM_001365999.1(SZT2):c.9339C>T (p.Tyr3113=)
NM_001365999.1(SZT2):c.9359C>A (p.Ser3120Tyr) rs2153936812
NM_001365999.1(SZT2):c.9501G>A (p.Leu3167=)
NM_001365999.1(SZT2):c.9507C>T (p.Val3169=)
NM_001365999.1(SZT2):c.9888G>T (p.Gly3296=)

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