List of variants in gene SH3TC2 reported as uncertain significance by Genesis Genome Database

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)	rs77636085	0.00075
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)	rs751621364	0.00036
NM_024577.4(SH3TC2):c.*882G>A	rs775429372	0.00027
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.1586G>A (p.Arg529His)	rs80338923	0.00002
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)	rs778936762	0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	rs80338925	0.00002
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe)	rs139958177	0.00002
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)	rs80338930	0.00001
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr)	rs769133498	0.00001
NM_024577.4(SH3TC2):c.386-2A>C	rs145670786	0.00001
NM_024577.4(SH3TC2):c.529+1G>A	rs769410348	0.00001
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)	rs757969875	0.00001
NM_024577.4(SH3TC2):c.858_862del	rs1561755591
NM_024577.4(SH3TC2):c.*861dup	rs5872107
NM_024577.4(SH3TC2):c.1002-8del	rs1580903964
NM_024577.4(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu)	rs1554121791
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)	rs863224780
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln)	rs551953142
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys)	rs1580900765
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)	rs1064797314
NM_024577.4(SH3TC2):c.2015del (p.Val672fs)	rs1580900610
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly)	rs974346945
NM_024577.4(SH3TC2):c.2696T>C (p.Leu899Pro)	rs112337746
NM_024577.4(SH3TC2):c.280-1334dup	rs752479043
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs)	rs1580889900
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)	rs1222150652
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)	rs1580917136

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