ClinVar Miner

List of variants in gene SPTAN1 reported as likely benign for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001130438.3(SPTAN1):c.931-16C>T rs149289060 0.00285
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538 0.00004
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492 0.00004
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761 0.00003
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 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.1824A>G (p.Gln608=) rs1057523726 0.00001
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=) rs1357221237 0.00001
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg) rs150793549
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.6016A>T (p.Thr2006Ser)
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg) rs2131953509
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln) rs755273355
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser) rs1589389281
NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro) rs1851427709

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