ClinVar Miner

List of variants in gene SH3TC2 studied for not provided

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Total variants: 203
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.3(SH3TC2):c.1002-119G>A
NM_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.1002-7G>A rs752528409
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1135+197T>G
NM_024577.3(SH3TC2):c.1135+3G>C rs1064793267
NM_024577.3(SH3TC2):c.1172T>G (p.Leu391Arg) rs141544031
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1177+9C>T rs375581325
NM_024577.3(SH3TC2):c.1178-8C>T rs202042438
NM_024577.3(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1195T>C (p.Phe399Leu) rs144764160
NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=) rs748870159
NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His) rs146997517
NM_024577.3(SH3TC2):c.1282G>T (p.Glu428Ter) rs1554121777
NM_024577.3(SH3TC2):c.1284G>A (p.Glu428=) rs367691494
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1311C>T (p.Asp437=) rs749587305
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192
NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184
NM_024577.3(SH3TC2):c.1329G>A (p.Glu443=) rs150135768
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.1351G>T (p.Glu451Ter) rs1308058909
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) rs146666910
NM_024577.3(SH3TC2):c.1473C>T (p.Phe491=) rs144016931
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543
NM_024577.3(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
NM_024577.3(SH3TC2):c.1653C>T (p.Phe551=) rs538871220
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) rs139898175
NM_024577.3(SH3TC2):c.1788T>A (p.Gly596=) rs141893132
NM_024577.3(SH3TC2):c.1797_1800dup (p.Cys601fs) rs749963147
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) rs182893450
NM_024577.3(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.1947C>T (p.His649=) rs576049662
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) rs17109261
NM_024577.3(SH3TC2):c.2128C>T (p.Gln710Ter) rs753287764
NM_024577.3(SH3TC2):c.2130G>A (p.Gln710=) rs763652479
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.2254G>A (p.Asp752Asn) rs749008572
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
NM_024577.3(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) rs145345364
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.3(SH3TC2):c.2488G>T (p.Glu830Ter) rs879254317
NM_024577.3(SH3TC2):c.2506G>A (p.Gly836Arg) rs768389060
NM_024577.3(SH3TC2):c.2551C>T (p.Arg851Trp) rs144655516
NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.2715C>G (p.Leu905=) rs141789598
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.2868A>G (p.Leu956=) rs115507662
NM_024577.3(SH3TC2):c.2872+37A>G
NM_024577.3(SH3TC2):c.2872+9G>A rs76488338
NM_024577.3(SH3TC2):c.2873-4T>A rs771093927
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.3(SH3TC2):c.2940C>T (p.Cys980=) rs140104134
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710
NM_024577.3(SH3TC2):c.3053+103G>A
NM_024577.3(SH3TC2):c.3054-241G>A
NM_024577.3(SH3TC2):c.3054-65T>C
NM_024577.3(SH3TC2):c.3095G>A (p.Arg1032His) rs372839905
NM_024577.3(SH3TC2):c.3097A>G (p.Ile1033Val) rs794727104
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.312dup (p.Gln105fs) rs1554122973
NM_024577.3(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333
NM_024577.3(SH3TC2):c.3168C>T (p.Leu1056=) rs200795092
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3205-138G>A
NM_024577.3(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3300del (p.His1100fs) rs774401267
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3313G>A (p.Val1105Met) rs750746661
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3327+225C>G
NM_024577.3(SH3TC2):c.3327+70C>T
NM_024577.3(SH3TC2):c.3328-315G>A
NM_024577.3(SH3TC2):c.3360G>A (p.Lys1120=) rs967171497
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3363G>A (p.Ala1121=) rs547035706
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803
NM_024577.3(SH3TC2):c.3479-8A>G rs147800229
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632
NM_024577.3(SH3TC2):c.3643C>A (p.Arg1215Ser) rs267600481
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3712C>A (p.Leu1238Met) rs757548779
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612
NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys)
NM_024577.3(SH3TC2):c.385+4_385+8delTGGTA rs148930563
NM_024577.3(SH3TC2):c.386-195T>C
NM_024577.3(SH3TC2):c.473_481del (p.Val158_Val160del) rs1554122850
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024577.3(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.52+237G>A
NM_024577.3(SH3TC2):c.52+239C>T
NM_024577.3(SH3TC2):c.52+4_52+5delAG rs879254057
NM_024577.3(SH3TC2):c.529+10G>A rs768567281
NM_024577.3(SH3TC2):c.529+178C>T
NM_024577.3(SH3TC2):c.529+8T>A rs780594631
NM_024577.3(SH3TC2):c.53-161C>T
NM_024577.3(SH3TC2):c.53-258G>T
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.731+5G>A rs879254316
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882
NM_024577.3(SH3TC2):c.748_750del (p.Tyr250del) rs1064795016
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.3(SH3TC2):c.805+9G>A rs143808719
NM_024577.3(SH3TC2):c.814C>T (p.Arg272Cys) rs146143252
NM_024577.3(SH3TC2):c.831G>A (p.Thr277=) rs750308484
NM_024577.3(SH3TC2):c.836A>G (p.Tyr279Cys) rs200215156
NM_024577.3(SH3TC2):c.904A>G (p.Ile302Val) rs745345448
NM_024577.3(SH3TC2):c.936G>A (p.Ser312=) rs918659172
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_024577.4(SH3TC2):c.1002-8C>T
NM_024577.4(SH3TC2):c.1239C>T (p.Ala413=)
NM_024577.4(SH3TC2):c.1512G>A (p.Glu504=)
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
NM_024577.4(SH3TC2):c.1953G>A (p.Glu651=)
NM_024577.4(SH3TC2):c.1992A>G (p.Gly664=)
NM_024577.4(SH3TC2):c.1995C>T (p.His665=)
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu)
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)
NM_024577.4(SH3TC2):c.2196T>G (p.Val732=)
NM_024577.4(SH3TC2):c.2226G>A (p.Gln742=)
NM_024577.4(SH3TC2):c.2286C>T (p.Ile762=)
NM_024577.4(SH3TC2):c.2469A>G (p.Leu823=)
NM_024577.4(SH3TC2):c.2520C>T (p.Asn840=)
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
NM_024577.4(SH3TC2):c.264G>A (p.Val88=)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=)
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
NM_024577.4(SH3TC2):c.320C>G (p.Ala107Gly)
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.3327+8C>T
NM_024577.4(SH3TC2):c.3432G>A (p.Lys1144=)
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=)
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=)
NM_024577.4(SH3TC2):c.3479-5C>T
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp)
NM_024577.4(SH3TC2):c.3621G>A (p.Leu1207=)
NM_024577.4(SH3TC2):c.3762G>A (p.Arg1254=)
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=)
NM_024577.4(SH3TC2):c.386-10G>A
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=)
NM_024577.4(SH3TC2):c.53-5T>C
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=)
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)

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