List of variants in gene SPTAN1 reported as uncertain significance for West syndrome

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: 125

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	rs143108250	0.00073
NM_001130438.3(SPTAN1):c.5478+12G>A	rs41275900	0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C	rs370705867	0.00067
NM_001130438.3(SPTAN1):c.7161-9C>T	rs187613754	0.00061
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)	rs34654141	0.00028
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr)	rs1427892796	0.00011
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)	rs745697305	0.00010
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser)	rs752578570	0.00009
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys)	rs920545433	0.00007
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln)	rs149367932	0.00006
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)	rs145054594	0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G	rs770046688	0.00005
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser)	rs200241514	0.00005
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=)	rs968327265	0.00004
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser)	rs552623597	0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys)	rs775190610	0.00004
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)	rs372062686	0.00003
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)	rs776648566	0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile)	rs1057520841	0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)	rs200531434	0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His)	rs796053314	0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)	rs368482631	0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser)	rs371178746	0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His)	rs1368132952	0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln)	rs1176851202	0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His)	rs762216368	0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)	rs746824729	0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg)	rs757109566	0.00002
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)	rs771906889	0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg)	rs796053322	0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys)	rs796053323	0.00002
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val)	rs767399516	0.00002
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys)	rs757162652	0.00002
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys)	rs1336849921	0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)	rs746532292	0.00002
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)	rs587784431	0.00001
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)	rs796053315	0.00001
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser)	rs773328719	0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)	rs370304886	0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)	rs146412583	0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)	rs1339046005	0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg)	rs899998696	0.00001
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys)	rs776279771	0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)	rs943636575	0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)	rs530361602	0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)	rs794727356	0.00001
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)	rs587784436	0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)	rs199561983	0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg)	rs748698544	0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T	rs199802986	0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val)	rs1060503492	0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup	rs797046004	0.00001
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro)	rs781124530	0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg)	rs745798632	0.00001
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu)	rs942861981	0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys)	rs773140619	0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)	rs776728710	0.00001
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val)	rs754419719	0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T	rs587784437	0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp)	rs764247109	0.00001
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)	rs772382171	0.00001
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr)	rs961696023	0.00001
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn)	rs777407223	0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)	rs754276364	0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln)	rs751423380	0.00001
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg)	rs754910706	0.00001
NM_001130438.3(SPTAN1):c.6763-7C>T	rs587784439	0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln)	rs772995493	0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys)	rs759975874	0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)	rs772367229	0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys)	rs794727910	0.00001
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp)	rs1589203624
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)	rs1455085342
NM_001130438.3(SPTAN1):c.1573-6_1573-3del	rs758557229
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys)	rs79650677
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln)	rs587784432
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr)	rs2131129868
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=)	rs587784433
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter)	rs1852298912
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln)	rs774283264
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser)	rs766491965
NM_001130438.3(SPTAN1):c.2438-13T>G	rs587784434
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg)	rs1564229501
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs)	rs1852530020
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys)	rs886043660
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser)	rs587784435
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)	rs1064797353
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe)	rs1852827656
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)	rs764844675
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)	rs1853920585
NM_001130438.3(SPTAN1):c.3626A>C (p.Lys1209Thr)
NM_001130438.3(SPTAN1):c.364-3C>G	rs1851102695
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn)	rs1855652617
NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr)	rs1048236
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)	rs1407200590
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys)	rs1156309213
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn)	rs1856146384
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys)	rs149899658
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr)	rs776999454
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)	rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)	rs1589327320
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile)	rs1129924
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met)	rs2131703648
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg)	rs1857087403
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter)	rs146418243
NM_001130438.3(SPTAN1):c.5392G>T (p.Gly1798Cys)	rs756006714
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr)	rs796053320
NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)	rs772780483
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly)	rs11543346
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys)	rs1564315398
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)	rs72758823
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln)	rs1858936991
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)	rs1858943245
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln)	rs796053329
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr)	rs767301092
NM_001130438.3(SPTAN1):c.7160+5_7160+9del	rs747442396
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter)	rs2132957934
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)	rs1850091477
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)	rs796053298

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