List of variants in gene STXBP1 reported as pathogenic 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: 115

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HGVS	dbSNP	gnomAD frequency
NC_000009.11:g.(?_130374683)_(130416095_?)del
NC_000009.11:g.(?_130413862)_(130439052_?)del
NC_000009.11:g.(?_130438083)_(130439032_?)del
NC_000009.11:g.(?_130441808)_(130444802_?)del
NC_000009.12:g.(?_127612384)_(127690877_?)del
NC_000009.12:g.(?_127651583)_(127653816_?)del
NC_000009.12:g.(?_127651583)_(127690877_?)del
NC_000009.12:g.(?_127653695)_(127676773_?)del
NC_000009.12:g.(?_127658355)_(127658471_?)del
NC_000009.12:g.(?_127669878)_(127669978_?)del
NC_000009.12:g.127660030_127660059del	rs2131450364
NC_000009.12:g.127669899del	rs2131488795
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser)	rs1085307916
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)	rs398123695
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)	rs1057519501
NM_001032221.6(STXBP1):c.1011C>G (p.Tyr337Ter)
NM_001032221.6(STXBP1):c.1028del (p.Lys343fs)	rs1841566644
NM_001032221.6(STXBP1):c.1029+1G>T	rs727504173
NM_001032221.6(STXBP1):c.1067dup (p.His357fs)
NM_001032221.6(STXBP1):c.1074C>G (p.Tyr358Ter)
NM_001032221.6(STXBP1):c.1092dup (p.Leu365fs)	rs1841615616
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	rs796053366
NM_001032221.6(STXBP1):c.1111-2A>G	rs1554778417
NM_001032221.6(STXBP1):c.1153dup (p.Asp385fs)	rs1841723344
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	rs121918321
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter)	rs1841766225
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)	rs886039435
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)	rs2131513223
NM_001032221.6(STXBP1):c.1305_1312dup (p.Glu438fs)
NM_001032221.6(STXBP1):c.1354dup (p.Thr452fs)
NM_001032221.6(STXBP1):c.1359+1G>A	rs796053370
NM_001032221.6(STXBP1):c.1359+3A>C	rs2131513660
NM_001032221.6(STXBP1):c.1359+5G>A	rs2131513670
NM_001032221.6(STXBP1):c.1359_1360insC (p.Ser454fs)	rs2131521530
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs)	rs1554778657
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs)	rs1554778657
NM_001032221.6(STXBP1):c.1434G>A (p.Trp478Ter)	rs1060501722
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)	rs796053368
NM_001032221.6(STXBP1):c.1457T>C (p.Met486Thr)
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.148_149del (p.Ile50fs)
NM_001032221.6(STXBP1):c.1503T>A (p.Tyr501Ter)	rs1841946692
NM_001032221.6(STXBP1):c.1568_1569insAGTACCCA (p.His523fs)
NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter)	rs749965674
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs)	rs1842042825
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)	rs121918317
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)	rs121918317
NM_001032221.6(STXBP1):c.1641_1642insC (p.Asn548fs)	rs2131535952
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.1654T>C (p.Cys552Arg)	rs1842046459
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)	rs942940725
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)	rs796053376
NM_001032221.6(STXBP1):c.1702+1G>A	rs796053377
NM_001032221.6(STXBP1):c.1702+2T>C
NM_001032221.6(STXBP1):c.1702+2T>G
NM_001032221.6(STXBP1):c.1702G>C (p.Gly568Arg)
NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys)	rs2132460743
NM_001032221.6(STXBP1):c.223T>C (p.Tyr75His)
NM_001032221.6(STXBP1):c.225T>G (p.Tyr75Ter)	rs2132461012
NM_001032221.6(STXBP1):c.247-1G>A	rs1840967817
NM_001032221.6(STXBP1):c.265del (p.Ser89fs)	rs1060501723
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His)	rs1840970680
NM_001032221.6(STXBP1):c.323_325+1del	rs2131451053
NM_001032221.6(STXBP1):c.325+4A>T	rs2131451091
NM_001032221.6(STXBP1):c.345del (p.Phe115fs)	rs1564349850
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	rs794727792
NM_001032221.6(STXBP1):c.416C>A (p.Pro139Gln)	rs796053353
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032221.6(STXBP1):c.429+1G>A
NM_001032221.6(STXBP1):c.429G>A (p.Gln143=)	rs1841030849
NM_001032221.6(STXBP1):c.457_458del (p.Phe153fs)
NM_001032221.6(STXBP1):c.463del (p.Ser155fs)	rs1841133653
NM_001032221.6(STXBP1):c.520del (p.Glu174fs)	rs2131462829
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	rs1841141204
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	rs796053356
NM_001032221.6(STXBP1):c.578G>C (p.Gly193Ala)	rs1588313568
NM_001032221.6(STXBP1):c.578G>T (p.Gly193Val)	rs1588313568
NM_001032221.6(STXBP1):c.607C>T (p.Gln203Ter)	rs1564351103
NM_001032221.6(STXBP1):c.636T>A (p.Tyr212Ter)	rs1841238690
NM_001032221.6(STXBP1):c.636T>G (p.Tyr212Ter)	rs1841238690
NM_001032221.6(STXBP1):c.661del (p.Glu221fs)	rs1841239642
NM_001032221.6(STXBP1):c.663+1G>A	rs1841240415
NM_001032221.6(STXBP1):c.663+2T>C
NM_001032221.6(STXBP1):c.663+5G>A	rs2131469592
NM_001032221.6(STXBP1):c.664-1G>C	rs1554777464
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)	rs1554777470
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)	rs796053359
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	rs794727970
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)	rs587784453
NM_001032221.6(STXBP1):c.749A>G (p.Gln250Arg)
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs)	rs587784454
NM_001032221.6(STXBP1):c.755T>C (p.Met252Thr)	rs1841289209
NM_001032221.6(STXBP1):c.78_79dup (p.Glu27fs)
NM_001032221.6(STXBP1):c.794+1G>A	rs1554777496
NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter)	rs751170778
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter)	rs1564346538
NM_001032221.6(STXBP1):c.817G>T (p.Glu273Ter)	rs1564352002
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310
NM_001032221.6(STXBP1):c.84dup (p.Lys29fs)
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)	rs796053361
NM_001032221.6(STXBP1):c.88-1G>A
NM_001032221.6(STXBP1):c.903-2A>G
NM_001032221.6(STXBP1):c.903-69_905del
NM_001032221.6(STXBP1):c.910_917del (p.Thr304fs)
NM_001032221.6(STXBP1):c.912_915del (p.Arg305fs)
NM_001032221.6(STXBP1):c.920_921del (p.Leu307fs)	rs2131488963
NM_001032221.6(STXBP1):c.969del (p.Met324fs)
NM_001032221.6(STXBP1):c.971del (p.Met324fs)	rs2131497207
NM_001032221.6(STXBP1):c.980dup (p.Ser328fs)	rs2131497242

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