ClinVar Miner

List of variants in gene STXBP2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.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.1459G>A (p.Val487Met) rs150174842 0.00195
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.185A>G (p.Asn62Ser) rs540968221 0.00040
NM_006949.4(STXBP2):c.1431G>A (p.Pro477=) rs137978942 0.00015
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_006949.4(STXBP2):c.717C>T (p.Pro239=) rs367755105 0.00014
NM_006949.4(STXBP2):c.1458C>T (p.Ala486=) rs140877133 0.00013
NM_006949.4(STXBP2):c.663+11G>A rs199892437 0.00009
NM_006949.4(STXBP2):c.820G>T (p.Ala274Ser) rs199971069 0.00009
NM_006949.4(STXBP2):c.1761G>A (p.Leu587=) rs532356732 0.00008
NM_006949.4(STXBP2):c.960+9G>A rs371345040 0.00005
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1548C>T (p.Phe516=) rs201641708 0.00004
NM_006949.4(STXBP2):c.663+10C>T rs375337142 0.00004
NM_006949.4(STXBP2):c.1453-10C>T rs368488488 0.00003
NM_006949.4(STXBP2):c.48C>T (p.Ser16=) rs138548712 0.00003
NM_006949.4(STXBP2):c.1108-4G>A rs1175745070 0.00002
NM_006949.4(STXBP2):c.1538+17G>A rs886038579 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.1247-30_1247-3dup
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.578+7A>C
NM_006949.4(STXBP2):c.578+7del
NM_006949.4(STXBP2):c.578+8_578+9insG
NM_006949.4(STXBP2):c.578+8_578+9insGCC
NM_006949.4(STXBP2):c.927C>T (p.Thr309=)
NM_006949.4(STXBP2):c.963G>A (p.Ala321=) rs757211999

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