ClinVar Miner

List of variants in gene STXBP2 studied for not specified

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1356+77A>G rs710951 0.68394
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_006949.4(STXBP2):c.1696+77G>A rs794074 0.55264
NM_006949.4(STXBP2):c.1247-43T>C rs929807 0.46002
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+28G>C rs34976997 0.34997
NM_006949.4(STXBP2):c.1539-47G>A rs809916 0.21724
NM_006949.4(STXBP2):c.37+64G>A rs794076 0.20601
NM_006949.4(STXBP2):c.1538+28C>T rs55954306 0.10000
NM_006949.4(STXBP2):c.1357-281T>C rs3786614 0.09561
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.1696+46C>T rs114127210 0.01419
NM_006949.4(STXBP2):c.38-30A>C rs115668246 0.01349
NM_006949.4(STXBP2):c.1026+35G>A rs116022728 0.01330
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.1108-46T>C rs114574305 0.00418
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.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) rs78010345 0.00053
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_006949.4(STXBP2):c.1357-13G>A rs370994106 0.00027
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_006949.4(STXBP2):c.1530C>T (p.Ala510=) rs755717157 0.00016
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_006949.4(STXBP2):c.1356+5G>A rs748635794 0.00005
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_006949.4(STXBP2):c.663+10C>T rs375337142 0.00004
NM_006949.4(STXBP2):c.1026+3G>A rs759183489 0.00003
NM_006949.4(STXBP2):c.1453-9G>A rs372742473 0.00003
NM_006949.4(STXBP2):c.1190C>T (p.Ala397Val) rs1309026455 0.00002
NM_006949.4(STXBP2):c.1385C>T (p.Pro462Leu) rs573587268 0.00001
NM_006949.4(STXBP2):c.1501G>A (p.Asp501Asn) rs776782833 0.00001
NM_006949.4(STXBP2):c.1538+17G>A rs886038579 0.00001
NM_006949.4(STXBP2):c.184A>G (p.Asn62Asp) rs368283130 0.00001
NM_006949.4(STXBP2):c.902+4C>T rs1349313045 0.00001
NM_006949.4(STXBP2):c.-38del rs886038578
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1356+411C>G
NM_006949.4(STXBP2):c.1357-215G>A
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1630A>G (p.Met544Val) rs1263938690
NM_006949.4(STXBP2):c.1674G>T (p.Glu558Asp) rs780461960
NM_006949.4(STXBP2):c.1697-26T>G rs794073
NM_006949.4(STXBP2):c.1697-34C>G
NM_006949.4(STXBP2):c.246+52_246+59dup
NM_006949.4(STXBP2):c.247-165G>A
NM_006949.4(STXBP2):c.247-176TG[6]
NM_006949.4(STXBP2):c.247-316TG[4]
NM_006949.4(STXBP2):c.247-373_247-372insCA
NM_006949.4(STXBP2):c.247-380TG[3]
NM_006949.4(STXBP2):c.429+18C>G
NM_006949.4(STXBP2):c.902+32dup

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