ClinVar Miner

List of variants in gene SH3TC2 studied for not provided

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Total variants: 96
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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.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.1195T>C (p.Phe399Leu) rs144764160
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.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys)
NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184
NM_024577.3(SH3TC2):c.1351G>T (p.Glu451Ter) rs1308058909
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
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.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
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.1797_1800dup (p.Cys601fs) rs749963147
NM_024577.3(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
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.2128C>T (p.Gln710Ter) rs753287764
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042
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.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.2872+37A>G
NM_024577.3(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
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.3300del (p.His1100fs) rs774401267
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
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.3363G>A (p.Ala1121=) rs547035706
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
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.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.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.386-195T>C
NM_024577.3(SH3TC2):c.473_481del (p.Val158_Val160del) rs1554122850
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.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+178C>T
NM_024577.3(SH3TC2):c.53-161C>T
NM_024577.3(SH3TC2):c.53-258G>T
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.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.814C>T (p.Arg272Cys) rs146143252
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.957del (p.Phe320fs) rs1554122541

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