List of variants in gene STXBP1 reported as uncertain significance by Invitae

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: 162

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.865A>G (p.Ile289Val)	rs1334061327	0.00010
NM_001032221.6(STXBP1):c.1598G>C (p.Ser533Thr)	rs750155933	0.00003
NM_001032221.6(STXBP1):c.310G>A (p.Val104Ile)	rs751437146	0.00002
NM_001032221.6(STXBP1):c.429+3G>A	rs368213197	0.00002
NM_001032221.6(STXBP1):c.913C>T (p.Arg305Trp)	rs775811887	0.00002
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)	rs1046891783	0.00001
NM_001032221.6(STXBP1):c.1110+6A>T	rs886063467	0.00001
NM_001032221.6(STXBP1):c.1219A>G (p.Ile407Val)	rs1841727258	0.00001
NM_001032221.6(STXBP1):c.1250G>A (p.Gly417Asp)	rs796053369	0.00001
NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr)	rs148131665	0.00001
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met)	rs762251880	0.00001
NM_001032221.6(STXBP1):c.1370G>A (p.Arg457His)	rs796053389	0.00001
NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His)	rs796053372	0.00001
NM_001032221.6(STXBP1):c.1606C>T (p.Arg536Cys)	rs1241329041	0.00001
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His)	rs749244650	0.00001
NM_001032221.6(STXBP1):c.1702+6T>C	rs1453195192	0.00001
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)	rs764758291	0.00001
NM_001032221.6(STXBP1):c.367G>A (p.Ala123Thr)	rs1841026087	0.00001
NM_001032221.6(STXBP1):c.419A>G (p.Tyr140Cys)	rs774228113	0.00001
NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met)	rs1410933215	0.00001
NM_001032221.6(STXBP1):c.511C>T (p.Arg171Cys)	rs201772971	0.00001
NM_001032221.6(STXBP1):c.73A>C (p.Lys25Gln)	rs756787732	0.00001
NM_001032221.6(STXBP1):c.903G>A (p.Gln301=)	rs1364462270	0.00001
NM_001032221.6(STXBP1):c.914G>A (p.Arg305Gln)	rs763559860	0.00001
NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser)	rs757607352	0.00001
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn)	rs746172968	0.00001
NC_000009.11:g.(?_130415988)_(130432243_?)dup
NM_001032221.6(STXBP1):c.100G>A (p.Asp34Asn)
NM_001032221.6(STXBP1):c.1029+3A>G
NM_001032221.6(STXBP1):c.1048C>T (p.Leu350Phe)	rs2131501109
NM_001032221.6(STXBP1):c.1070A>C (p.His357Pro)
NM_001032221.6(STXBP1):c.1093C>G (p.Leu365Val)
NM_001032221.6(STXBP1):c.1107G>T (p.Glu369Asp)
NM_001032221.6(STXBP1):c.1109A>G (p.Gln370Arg)
NM_001032221.6(STXBP1):c.1110+5G>A
NM_001032221.6(STXBP1):c.1111-3T>A
NM_001032221.6(STXBP1):c.1111G>T (p.Asp371Tyr)
NM_001032221.6(STXBP1):c.1115T>C (p.Leu372Pro)
NM_001032221.6(STXBP1):c.1118_1123del (p.Ala373_Met374del)	rs2131509733
NM_001032221.6(STXBP1):c.1121_1126del (p.Met374_Gly375del)	rs2131509749
NM_001032221.6(STXBP1):c.1124G>T (p.Gly375Val)
NM_001032221.6(STXBP1):c.113T>C (p.Met38Thr)	rs538684549
NM_001032221.6(STXBP1):c.1159A>G (p.Met387Val)
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)	rs1554778420
NM_001032221.6(STXBP1):c.117G>T (p.Arg39Ser)	rs2132444493
NM_001032221.6(STXBP1):c.1193A>G (p.Asn398Ser)	rs750585484
NM_001032221.6(STXBP1):c.119T>A (p.Met40Lys)	rs1840654963
NM_001032221.6(STXBP1):c.1219A>C (p.Ile407Leu)
NM_001032221.6(STXBP1):c.1241T>C (p.Leu414Ser)	rs1286774865
NM_001032221.6(STXBP1):c.1306G>A (p.Asp436Asn)	rs149691747
NM_001032221.6(STXBP1):c.1310G>A (p.Ser437Asn)	rs1841769481
NM_001032221.6(STXBP1):c.1325A>G (p.Asn442Ser)	rs1564354895
NM_001032221.6(STXBP1):c.1328T>A (p.Met443Lys)
NM_001032221.6(STXBP1):c.1339G>A (p.Gly447Ser)
NM_001032221.6(STXBP1):c.1342G>A (p.Val448Met)
NM_001032221.6(STXBP1):c.1345C>G (p.Pro449Ala)
NM_001032221.6(STXBP1):c.1349T>C (p.Ile450Thr)	rs1554778503
NM_001032221.6(STXBP1):c.1372C>T (p.Arg458Cys)
NM_001032221.6(STXBP1):c.1388A>G (p.Glu463Gly)	rs2131521876
NM_001032221.6(STXBP1):c.1400G>T (p.Arg467Leu)
NM_001032221.6(STXBP1):c.1405A>T (p.Ser469Cys)	rs2131522070
NM_001032221.6(STXBP1):c.1424_1425delinsAA (p.Leu475Gln)
NM_001032221.6(STXBP1):c.1430G>A (p.Arg477Gln)	rs2131522253
NM_001032221.6(STXBP1):c.1444A>C (p.Ile482Leu)
NM_001032221.6(STXBP1):c.1453A>G (p.Ile485Val)
NM_001032221.6(STXBP1):c.1461G>T (p.Glu487Asp)
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe)	rs1554778810
NM_001032221.6(STXBP1):c.1502A>T (p.Tyr501Phe)	rs2131528449
NM_001032221.6(STXBP1):c.1532G>C (p.Ser511Thr)
NM_001032221.6(STXBP1):c.1540G>A (p.Ala514Thr)	rs1333091651
NM_001032221.6(STXBP1):c.1553G>A (p.Arg518His)
NM_001032221.6(STXBP1):c.157G>C (p.Glu53Gln)
NM_001032221.6(STXBP1):c.1595G>A (p.Arg532His)	rs890000182
NM_001032221.6(STXBP1):c.1642A>C (p.Asn548His)
NM_001032221.6(STXBP1):c.1649T>A (p.Met550Lys)	rs2131536008
NM_001032221.6(STXBP1):c.1657G>A (p.Ala553Thr)
NM_001032221.6(STXBP1):c.1669A>C (p.Thr557Pro)	rs1842047674
NM_001032221.6(STXBP1):c.1673A>C (p.Gln558Pro)
NM_001032221.6(STXBP1):c.1681G>A (p.Gly561Arg)	rs369960553
NM_001032221.6(STXBP1):c.169+5G>C
NM_001032221.6(STXBP1):c.1696C>A (p.Leu566Met)	rs2131536412
NM_001032221.6(STXBP1):c.1697T>C (p.Leu566Pro)	rs2131536431
NM_001032221.6(STXBP1):c.1700T>C (p.Ile567Thr)	rs1842049650
NM_001032221.6(STXBP1):c.200C>T (p.Pro67Leu)
NM_001032221.6(STXBP1):c.230T>C (p.Ile77Thr)
NM_001032221.6(STXBP1):c.238T>C (p.Ser80Pro)	rs1840867221
NM_001032221.6(STXBP1):c.247-17T>A
NM_001032221.6(STXBP1):c.247-20_247-14del
NM_001032221.6(STXBP1):c.248C>T (p.Ser83Phe)	rs2131450396
NM_001032221.6(STXBP1):c.256T>C (p.Ser86Pro)
NM_001032221.6(STXBP1):c.259C>G (p.Leu87Val)	rs1564349480
NM_001032221.6(STXBP1):c.284C>T (p.Pro95Leu)
NM_001032221.6(STXBP1):c.294A>C (p.Lys98Asn)
NM_001032221.6(STXBP1):c.313TTC[1] (p.Phe106del)	rs1840975645
NM_001032221.6(STXBP1):c.316T>G (p.Phe106Val)	rs2131451036
NM_001032221.6(STXBP1):c.334G>C (p.Asp112His)	rs1841023284
NM_001032221.6(STXBP1):c.337G>A (p.Ala113Thr)
NM_001032221.6(STXBP1):c.338C>A (p.Ala113Asp)	rs1841023635
NM_001032221.6(STXBP1):c.353T>C (p.Leu118Pro)	rs1841024997
NM_001032221.6(STXBP1):c.364C>G (p.Arg122Gly)	rs794727792
NM_001032221.6(STXBP1):c.368C>A (p.Ala123Glu)
NM_001032221.6(STXBP1):c.377T>G (p.Val126Gly)
NM_001032221.6(STXBP1):c.379A>G (p.Ile127Val)	rs1841026859
NM_001032221.6(STXBP1):c.424T>C (p.Ser142Pro)
NM_001032221.6(STXBP1):c.430-20A>G
NM_001032221.6(STXBP1):c.436T>C (p.Ser146Pro)	rs1841132069
NM_001032221.6(STXBP1):c.446C>A (p.Ser149Tyr)	rs903312718
NM_001032221.6(STXBP1):c.45G>A (p.Met15Ile)
NM_001032221.6(STXBP1):c.46C>T (p.His16Tyr)
NM_001032221.6(STXBP1):c.475C>A (p.Pro159Thr)
NM_001032221.6(STXBP1):c.478C>T (p.His160Tyr)
NM_001032221.6(STXBP1):c.488A>G (p.Gln163Arg)
NM_001032221.6(STXBP1):c.494A>G (p.Lys165Arg)	rs1841135927
NM_001032221.6(STXBP1):c.496A>G (p.Asn166Asp)
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser)	rs1841136116
NM_001032221.6(STXBP1):c.51T>A (p.Asp17Glu)
NM_001032221.6(STXBP1):c.525G>T (p.Gln175His)	rs2131462838
NM_001032221.6(STXBP1):c.526A>T (p.Ile176Phe)	rs2131462854
NM_001032221.6(STXBP1):c.548T>C (p.Leu183Pro)	rs794727859
NM_001032221.6(STXBP1):c.562G>C (p.Ala188Pro)
NM_001032221.6(STXBP1):c.578+6G>A
NM_001032221.6(STXBP1):c.578+7C>T
NM_001032221.6(STXBP1):c.58AAG[1] (p.Lys21del)	rs1840555368
NM_001032221.6(STXBP1):c.593A>G (p.Asn198Ser)
NM_001032221.6(STXBP1):c.595G>A (p.Ala199Thr)	rs1841235707
NM_001032221.6(STXBP1):c.605C>T (p.Ala202Val)	rs1841236507
NM_001032221.6(STXBP1):c.628G>A (p.Asp210Asn)	rs1348662627
NM_001032221.6(STXBP1):c.655A>G (p.Met219Val)
NM_001032221.6(STXBP1):c.65_76del (p.Val22_Lys25del)	rs1840555501
NM_001032221.6(STXBP1):c.663+5G>T
NM_001032221.6(STXBP1):c.683C>T (p.Ser228Phe)	rs1554777469
NM_001032221.6(STXBP1):c.692T>C (p.Leu231Pro)
NM_001032221.6(STXBP1):c.725_726insGGG (p.Pro242_Val243insGly)	rs2131472724
NM_001032221.6(STXBP1):c.735T>A (p.His245Gln)
NM_001032221.6(STXBP1):c.746T>C (p.Phe249Ser)
NM_001032221.6(STXBP1):c.758G>A (p.Ser253Asn)	rs1588319727
NM_001032221.6(STXBP1):c.75G>T (p.Lys25Asn)
NM_001032221.6(STXBP1):c.794+4_794+7del	rs1841291870
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)
NM_001032221.6(STXBP1):c.850G>A (p.Asp284Asn)
NM_001032221.6(STXBP1):c.863G>T (p.Trp288Leu)	rs1564352031
NM_001032221.6(STXBP1):c.87+7A>G
NM_001032221.6(STXBP1):c.88-16_88-5del	rs1840652151
NM_001032221.6(STXBP1):c.88-3C>T	rs1840652995
NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)	rs1064794322
NM_001032221.6(STXBP1):c.902+6del
NM_001032221.6(STXBP1):c.902A>T (p.Gln301Leu)	rs1841388153
NM_001032221.6(STXBP1):c.903-12T>G
NM_001032221.6(STXBP1):c.935C>G (p.Ser312Cys)
NM_001032221.6(STXBP1):c.963G>A (p.Lys321=)	rs1554777932
NM_001032221.6(STXBP1):c.964A>G (p.Thr322Ala)
NM_001032221.6(STXBP1):c.973C>T (p.Arg325Trp)
NM_001032221.6(STXBP1):c.977A>T (p.Asp326Val)
NM_001032221.6(STXBP1):c.982T>A (p.Ser328Thr)
NM_003165.3(STXBP1):c.88-?_963+?dup
NM_003165.6(STXBP1):c.1723C>T (p.Pro575Ser)	rs1842134181
NM_003165.6(STXBP1):c.1727C>T (p.Thr576Ile)
NM_003165.6(STXBP1):c.1736_1737delinsAA (p.Leu579Gln)	rs2131543105
NM_003165.6(STXBP1):c.1780T>C (p.Ser594Pro)
NM_003165.6(STXBP1):c.1783T>G (p.Phe595Val)	rs1318295744
NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn)	rs749807465
NM_003165.6(STXBP1):c.1811G>C (p.Ter604Ser)

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