ClinVar Miner

List of variants in gene SH3TC2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.*2397G>A rs17722155 0.03207
NM_024577.4(SH3TC2):c.*6162C>T rs17795115 0.03204
NM_024577.4(SH3TC2):c.*2900G>T rs3763019 0.03116
NM_024577.4(SH3TC2):c.*11120G>A rs2069087 0.03085
NM_024577.4(SH3TC2):c.*2428C>T rs149384180 0.03078
NM_024577.4(SH3TC2):c.3327+119T>G rs17641073 0.02924
NM_024577.4(SH3TC2):c.385+197G>A rs140081959 0.01988
NM_024577.4(SH3TC2):c.*7810T>A rs57517567 0.01532
NM_024577.4(SH3TC2):c.1002-118C>T rs12163955 0.01425
NM_024577.4(SH3TC2):c.*14750A>G rs149133999 0.01302
NM_024577.4(SH3TC2):c.*10767G>A rs139720866 0.01293
NM_024577.4(SH3TC2):c.529+47C>T rs75417523 0.01287
NM_024577.4(SH3TC2):c.3054-299G>A rs76629974 0.01146
NM_024577.4(SH3TC2):c.805+170A>C rs77636251 0.01108
NM_024577.4(SH3TC2):c.279+145G>A rs148402978 0.01074
NM_024577.4(SH3TC2):c.*2237G>A rs76481943 0.01060
NM_024577.4(SH3TC2):c.*14894G>A rs17109192 0.01038
NM_024577.4(SH3TC2):c.*2952_*2955dup rs200996128 0.00932
NM_024577.4(SH3TC2):c.*6242A>G rs142279453 0.00889
NM_024577.4(SH3TC2):c.*11604G>A rs143229015 0.00876
NM_024577.4(SH3TC2):c.*8053G>A rs115027318 0.00859
NM_024577.4(SH3TC2):c.*10864G>A rs189701174 0.00853
NM_024577.4(SH3TC2):c.530-55C>T rs115896566 0.00734
NM_024577.4(SH3TC2):c.3675+210T>A rs17109233 0.00706
NM_024577.4(SH3TC2):c.3328-117C>T rs73795736 0.00663
NM_024577.4(SH3TC2):c.*6470T>C rs185164450 0.00616
NM_024577.4(SH3TC2):c.*15061C>T rs115722370 0.00585
NM_024577.4(SH3TC2):c.*20967G>A rs115632195 0.00551
NM_024577.4(SH3TC2):c.*7948G>A rs114097060 0.00550
NM_024577.4(SH3TC2):c.*13492A>G rs116345946 0.00549
NM_024577.4(SH3TC2):c.3328-236T>C rs115190093 0.00549
NM_024577.4(SH3TC2):c.732-196A>G rs148150334 0.00538
NM_024577.4(SH3TC2):c.3205-172G>A rs151330685 0.00531
NM_024577.4(SH3TC2):c.*10052C>T rs113802539 0.00525
NM_024577.4(SH3TC2):c.*19270G>A rs149188140 0.00516
NM_024577.4(SH3TC2):c.3676-290T>A rs116235152 0.00514
NM_024577.4(SH3TC2):c.*2899_*2910del rs199656364 0.00502
NM_024577.4(SH3TC2):c.*47C>T rs79738100 0.00493
NM_024577.4(SH3TC2):c.3675+278T>C rs191597866 0.00492
NM_024577.4(SH3TC2):c.*16330G>A rs80295748 0.00476
NM_024577.4(SH3TC2):c.*6600T>C rs115541211 0.00464
NM_024577.4(SH3TC2):c.1001+257del rs552232271 0.00386
NM_024577.4(SH3TC2):c.*3061A>G rs138823547 0.00372
NM_024577.4(SH3TC2):c.529+92T>C rs142596521 0.00372
NM_024577.4(SH3TC2):c.*21786G>A rs6890482 0.00357
NM_024577.4(SH3TC2):c.*6301C>T rs188143654 0.00337
NM_024577.4(SH3TC2):c.529+294C>T rs560697222 0.00332
NM_024577.4(SH3TC2):c.53-149T>C rs141539240 0.00331
NM_024577.4(SH3TC2):c.152-70G>A rs181983354 0.00323
NM_024577.4(SH3TC2):c.386-24A>T rs147593465 0.00323
NM_024577.4(SH3TC2):c.3478+113C>A rs143281623 0.00322
NM_024577.4(SH3TC2):c.3053+266G>C rs143211793 0.00321
NM_024577.4(SH3TC2):c.806-229G>T rs149917269 0.00316
NM_024577.4(SH3TC2):c.731+65T>C rs150219967 0.00315
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600 0.00166
NM_024577.4(SH3TC2):c.2873-18T>C rs113514936 0.00154
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 0.00108
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=) rs375970910 0.00083
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=) rs145345364 0.00038
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=) rs146666910 0.00031
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=) rs140829706 0.00026
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=) rs139898175 0.00023
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=) rs141789598 0.00018
NM_024577.4(SH3TC2):c.831G>A (p.Thr277=) rs750308484 0.00015
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=) rs150135768 0.00014
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
NM_024577.4(SH3TC2):c.1002-7G>A rs752528409 0.00009
NM_024577.4(SH3TC2):c.280-5C>T rs201937366 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=) rs574669908 0.00006
NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=) rs538871220 0.00005
NM_024577.4(SH3TC2):c.3168C>T (p.Leu1056=) rs200795092 0.00004
NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=) rs967171497 0.00004
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024577.4(SH3TC2):c.2873-4T>A rs771093927 0.00003
NM_024577.4(SH3TC2):c.1764C>T (p.Gly588=) rs776029143 0.00002
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
NM_024577.4(SH3TC2):c.936G>A (p.Ser312=) rs918659172 0.00002
NM_024577.4(SH3TC2):c.1135+15T>G rs765853048 0.00001
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=) rs749587305 0.00001
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=) rs763652479 0.00001
NM_024577.4(SH3TC2):c.2520C>T (p.Asn840=) rs371588176 0.00001
NM_024577.4(SH3TC2):c.2940C>T (p.Cys980=) rs140104134 0.00001
NM_024577.4(SH3TC2):c.53-17T>C rs1468767577 0.00001
NM_024577.4(SH3TC2):c.789A>G (p.Thr263=) rs780777249 0.00001
NM_024577.4(SH3TC2):c.*10051ACCA[11] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[16] rs57301725
NM_024577.4(SH3TC2):c.*21474AAAC[2] rs146796490
NM_024577.4(SH3TC2):c.*6392C>T rs114817736
NM_024577.4(SH3TC2):c.*6510G>A rs116056843
NM_024577.4(SH3TC2):c.1001+93del rs534457131
NM_024577.4(SH3TC2):c.152-239G>A rs115259259
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs537134516
NM_024577.4(SH3TC2):c.1959G>T (p.Leu653=) rs1554121674
NM_024577.4(SH3TC2):c.279+101C>T rs77336339
NM_024577.4(SH3TC2):c.3054-173G>T rs115476463
NM_024577.4(SH3TC2):c.3205-303dup rs558621445
NM_024577.4(SH3TC2):c.3478+37G>C rs191877271
NM_024577.4(SH3TC2):c.3676-118CAAA[8] rs71274358

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