ClinVar Miner

List of variants in gene SH3TC2 reported as pathogenic by Invitae

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=) rs776221160 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu) rs763949764 0.00003
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181 0.00001
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665 0.00001
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter) rs757701609 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717 0.00001
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter) rs1248359114 0.00001
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter) rs1754425732 0.00001
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter) rs377509077 0.00001
NC_000005.10:g.(?_149040594)_(149040687_?)del
NC_000005.10:g.(?_149047842)_(149048009_?)del
NC_000005.9:g.(?_148360713)_(148443737_?)del
NC_000005.9:g.(?_148420147)_(148420260_?)del
NC_000005.9:g.(?_148426859)_(148427552_?)del
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs) rs2127398588
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs) rs2127398558
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer) rs1580901363
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter) rs2127397561
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2127397557
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer) rs2127397555
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs) rs1319576439
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs) rs1754097044
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter) rs770170997
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter) rs1318388071
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) rs1754081385
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter) rs2127393407
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter) rs1580889866
NM_024577.4(SH3TC2):c.3327+1G>A rs2127392839
NM_024577.4(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del) rs1753702797
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.4(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter) rs1754371447
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter) rs2127400649
NM_024577.4(SH3TC2):c.805+2T>C rs139052887
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter) rs1754320158
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) rs1754319130
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)

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