ClinVar Miner

List of variants in gene SPTAN1 reported as benign for Early infantile epileptic encephalopathy

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Total variants: 46
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HGVS dbSNP
NM_001130438.2(SPTAN1):c.7160+10_7160+13delTTAA rs554161838
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.1690C>T (p.Arg564Cys) rs759822213
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
NM_001130438.3(SPTAN1):c.3536T>C (p.Met1179Thr) rs564155435
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823
NM_001130438.3(SPTAN1):c.5085= (p.Leu1695=) rs1415568
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
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.6190G>A (p.Ala2064Thr) rs201411901
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.3(SPTAN1):c.6280-5T>A rs746651127
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692
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.774G>A (p.Gln258=) rs138609094
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298

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