ClinVar Miner

List of variants in gene SPTAN1 studied for Early Infantile Epileptic Encephalopathy, Autosomal Dominant

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Gene type:
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Total variants: 82
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HGVS dbSNP
NM_001130438.2(SPTAN1):c.-139A>G rs886063495
NM_001130438.2(SPTAN1):c.7160+10_7160+13delTTAA rs554161838
NM_001130438.2(SPTAN1):c.7309-12_7309-11delCT rs770948927
NM_001130438.3(SPTAN1):c.*111G>T rs74995813
NM_001130438.3(SPTAN1):c.*148C>T rs113912557
NM_001130438.3(SPTAN1):c.*149G>A rs188688870
NM_001130438.3(SPTAN1):c.*155G>A rs11543348
NM_001130438.3(SPTAN1):c.*166A>G rs886063512
NM_001130438.3(SPTAN1):c.*20A>G rs886063511
NM_001130438.3(SPTAN1):c.*284A>G rs886063513
NM_001130438.3(SPTAN1):c.*46C>T rs367989148
NM_001130438.3(SPTAN1):c.-12C>A rs886063499
NM_001130438.3(SPTAN1):c.-27A>G rs886063498
NM_001130438.3(SPTAN1):c.-71C>T rs886063497
NM_001130438.3(SPTAN1):c.-73C>T rs886063496
NM_001130438.3(SPTAN1):c.-74C>T rs539544825
NM_001130438.3(SPTAN1):c.-77A>G rs570950377
NM_001130438.3(SPTAN1):c.1221+11C>G rs113357847
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.1806+15G>T rs372203791
NM_001130438.3(SPTAN1):c.1807-11T>C rs139049596
NM_001130438.3(SPTAN1):c.2037G>C (p.Gln679His) rs777716023
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.3(SPTAN1):c.2719C>T (p.Arg907Trp) rs886063502
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.3(SPTAN1):c.2940G>C (p.Glu980Asp) rs886063503
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864
NM_001130438.3(SPTAN1):c.3495G>A (p.Glu1165=) rs886063504
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=) rs199902257
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017
NM_001130438.3(SPTAN1):c.4047-14G>T rs558154123
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=) rs150097844
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4344+8T>C rs886063505
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His) rs745394212
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.5013G>A (p.Gly1671=) rs886063506
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.3(SPTAN1):c.505-14T>C rs372907681
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=) rs886063507
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=) rs150801649
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6532G>A (p.Glu2178Lys) rs886063508
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539
NM_001130438.3(SPTAN1):c.6738C>T (p.Leu2246=) rs762644827
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509
NM_001130438.3(SPTAN1):c.6959+6C>T rs542848685
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.3(SPTAN1):c.7305C>T (p.Tyr2435=) rs527570862
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.3(SPTAN1):c.922G>A (p.Glu308Lys) rs886063500

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