ClinVar Miner

List of variants in gene SZT2 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
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.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.6380A>T (p.Tyr2127Phe) rs149812437 0.00200
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.2955C>T (p.Cys985=) rs151189395 0.00113
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.8427G>A (p.Glu2809=) rs140309222 0.00088
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.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.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.5937C>T (p.His1979=) rs149717460 0.00038
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.2499C>T (p.Phe833=) rs777334279 0.00030
NM_001365999.1(SZT2):c.1335A>T (p.Ala445=) rs377411973 0.00027
NM_001365999.1(SZT2):c.1296G>A (p.Leu432=) rs769656441 0.00024
NM_001365999.1(SZT2):c.1458T>C (p.Arg486=) rs376484331 0.00021
NM_001365999.1(SZT2):c.528T>C (p.Pro176=) rs780340130 0.00021
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=) rs138303356 0.00019
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.9795G>C (p.Leu3265=) rs569613488 0.00015
NM_001365999.1(SZT2):c.2034C>T (p.His678=) rs201529142 0.00014
NM_001365999.1(SZT2):c.4524G>A (p.Glu1508=) rs146416049 0.00014
NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=) rs372935996 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.5772G>T (p.Leu1924=) rs187188981 0.00011
NM_001365999.1(SZT2):c.6306C>G (p.Ser2102=) rs1009175468 0.00011
NM_001365999.1(SZT2):c.3251C>T (p.Pro1084Leu) rs373408367 0.00009
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.8725C>T (p.Leu2909=) rs111662559 0.00009
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.3489G>A (p.Lys1163=) rs149793909 0.00007
NM_001365999.1(SZT2):c.1191C>T (p.Ala397=) rs772072313 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.8556A>C (p.Thr2852=) rs201027552 0.00006
NM_001365999.1(SZT2):c.6541C>T (p.Leu2181=) rs145034016 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.4599C>T (p.Asp1533=) rs200228680 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.8947C>T (p.Leu2983=) rs752431707 0.00004
NM_001365999.1(SZT2):c.10239C>T (p.Tyr3413=) rs757144339 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.3657C>T (p.Tyr1219=) rs111604978 0.00003
NM_001365999.1(SZT2):c.3690G>A (p.Ala1230=) rs1041324146 0.00003
NM_001365999.1(SZT2):c.4710G>A (p.Thr1570=) rs375889333 0.00003
NM_001365999.1(SZT2):c.5645A>G (p.Asn1882Ser) rs573213368 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.2775G>A (p.Lys925=) rs1055395161 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.5391G>A (p.Ala1797=) rs752230870 0.00002
NM_001365999.1(SZT2):c.5832G>A (p.Pro1944=) rs759851058 0.00002
NM_001365999.1(SZT2):c.6666G>C (p.Leu2222=) rs142775911 0.00002
NM_001365999.1(SZT2):c.7230G>A (p.Ser2410=) rs754459485 0.00002
NM_001365999.1(SZT2):c.7669A>G (p.Ile2557Val) rs112994383 0.00002
NM_001365999.1(SZT2):c.8568C>T (p.Phe2856=) rs760466085 0.00002
NM_001365999.1(SZT2):c.1302A>G (p.Lys434=) rs1420992888 0.00001
NM_001365999.1(SZT2):c.2069G>A (p.Arg690Gln) rs751741065 0.00001
NM_001365999.1(SZT2):c.2427G>A (p.Ala809=) rs761742264 0.00001
NM_001365999.1(SZT2):c.297G>A (p.Glu99=) rs749244836 0.00001
NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val) rs200635457 0.00001
NM_001365999.1(SZT2):c.6084A>C (p.Thr2028=) rs1366420391 0.00001
NM_001365999.1(SZT2):c.7389T>C (p.Asp2463=) rs778123763 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.8335G>A (p.Val2779Ile) rs768028898 0.00001
NM_001365999.1(SZT2):c.8430C>T (p.Arg2810=) rs377123278 0.00001
NM_001365999.1(SZT2):c.9330A>G (p.Leu3110=) rs749144612 0.00001
NM_001365999.1(SZT2):c.10002C>T (p.Tyr3334=)
NM_001365999.1(SZT2):c.1086C>T (p.Tyr362=)
NM_001365999.1(SZT2):c.2170C>T (p.Pro724Ser) rs752789547
NM_001365999.1(SZT2):c.2178G>A (p.Val726=)
NM_001365999.1(SZT2):c.2208G>T (p.Arg736=) rs904037938
NM_001365999.1(SZT2):c.2310A>G (p.Pro770=)
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.2472-5T>C
NM_001365999.1(SZT2):c.256C>A (p.Arg86=)
NM_001365999.1(SZT2):c.2817C>A (p.Leu939=)
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.3501G>A (p.Gly1167=)
NM_001365999.1(SZT2):c.4525C>T (p.Leu1509=) rs1557566670
NM_001365999.1(SZT2):c.4561C>T (p.Leu1521=)
NM_001365999.1(SZT2):c.4575G>T (p.Gly1525=)
NM_001365999.1(SZT2):c.4692G>A (p.Pro1564=)
NM_001365999.1(SZT2):c.4995G>T (p.Gly1665=) rs1653847013
NM_001365999.1(SZT2):c.520T>C (p.Leu174=)
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.5518G>C (p.Val1840Leu)
NM_001365999.1(SZT2):c.5766G>C (p.Arg1922=) rs760518748
NM_001365999.1(SZT2):c.5803C>A (p.Arg1935=)
NM_001365999.1(SZT2):c.6024G>A (p.Leu2008=)
NM_001365999.1(SZT2):c.6030T>C (p.Ser2010=)
NM_001365999.1(SZT2):c.603G>A (p.Leu201=) rs1557531678
NM_001365999.1(SZT2):c.6459C>T (p.Gly2153=)
NM_001365999.1(SZT2):c.675G>A (p.Lys225=) rs564963914
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=) rs375793150
NM_001365999.1(SZT2):c.7230G>T (p.Ser2410=) rs754459485
NM_001365999.1(SZT2):c.7446G>A (p.Glu2482=) rs979339741
NM_001365999.1(SZT2):c.7948T>C (p.Leu2650=)
NM_001365999.1(SZT2):c.9426G>A (p.Val3142=) rs1328052292
NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=) rs534948696
NM_001365999.1(SZT2):c.9910C>T (p.Leu3304=)
NM_001365999.1(SZT2):c.9978C>T (p.Phe3326=)

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