ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.*1077C>T rs41266677 0.00314
NM_012210.4(TRIM32):c.*1152A>G rs557939030 0.00190
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_012210.4(TRIM32):c.*512A>T rs144172952 0.00160
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_012210.4(TRIM32):c.578G>A (p.Arg193His) rs373853273 0.00019
NM_012210.4(TRIM32):c.*1246T>C rs573622329 0.00008
NM_012210.4(TRIM32):c.1384G>A (p.Val462Met) rs772922696 0.00004
NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile) rs368901621 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012210.4(TRIM32):c.712C>T (p.Arg238Cys) rs769410403 0.00002
NM_012210.4(TRIM32):c.375G>A (p.Glu125=) rs780765510 0.00001
GRCh37/hg19 9q33.1(chr9:119448976-119461984)x1
NM_012210.4(TRIM32):c.*479G>T rs543534409
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1161_1168dup (p.Arg390fs) rs1861028831
NM_012210.4(TRIM32):c.1283A>C (p.Asn428Thr) rs1064797352
NM_012210.4(TRIM32):c.1937A>G (p.His646Arg) rs1588219380
NM_012210.4(TRIM32):c.282T>C (p.Ala94=)
NM_012210.4(TRIM32):c.452A>C (p.Glu151Ala)
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp) rs372298402

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