ClinVar Miner

List of variants in gene STXBP2 reported as benign by Invitae

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_006949.4(STXBP2):c.1356+18A>G rs889187 0.44557
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_006949.4(STXBP2):c.1696+20A>G rs2303113 0.08971
NM_006949.4(STXBP2):c.1247-10C>T rs61407177 0.04087
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_006949.4(STXBP2):c.169+12C>T rs115239774 0.00930
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_006949.4(STXBP2):c.1538+10C>T rs139200597 0.00210
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_006949.4(STXBP2):c.246+18C>T rs201657700 0.00133
NM_006949.4(STXBP2):c.960+18T>A rs200402185 0.00101
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_006949.4(STXBP2):c.846C>T (p.Asp282=) rs143108973 0.00080
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) rs78010345 0.00053
NM_006949.4(STXBP2):c.185A>G (p.Asn62Ser) rs540968221 0.00040
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_006949.4(STXBP2):c.717C>T (p.Pro239=) rs367755105 0.00014
NM_006949.4(STXBP2):c.1356+13C>T rs544312114 0.00011
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_006949.4(STXBP2):c.1107+22del
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1246+11del
NM_006949.4(STXBP2):c.1356+25del
NM_006949.4(STXBP2):c.1538+11G>A rs560026431
NM_006949.4(STXBP2):c.1538+14del rs1430700652
NM_006949.4(STXBP2):c.1538+22del
NM_006949.4(STXBP2):c.169+18del
NM_006949.4(STXBP2):c.246+19GT[3] rs771901697
NM_006949.4(STXBP2):c.663+19del rs111268794
NM_006949.4(STXBP2):c.87+7dup

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