ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser) rs139943747 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His) rs780184944 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.6708-1171G>A rs1029370467 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly) rs374506067 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2647C>T (p.Arg883Trp) rs770641858 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 0.00001
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met) rs1312920158 0.00001
NM_001130438.3(SPTAN1):c.4558G>A (p.Gly1520Arg) rs374801331 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.128C>A (p.Ser43Tyr)
NM_001130438.3(SPTAN1):c.1886A>G (p.Asp629Gly) rs1589214618
NM_001130438.3(SPTAN1):c.1903G>A (p.Gly635Ser)
NM_001130438.3(SPTAN1):c.1959G>C (p.Met653Ile) rs1852167768
NM_001130438.3(SPTAN1):c.2091A>G (p.Val697=) rs1589216896
NM_001130438.3(SPTAN1):c.226A>G (p.Thr76Ala) rs753016149
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp) rs1253697977
NM_001130438.3(SPTAN1):c.2378T>C (p.Val793Ala)
NM_001130438.3(SPTAN1):c.2428A>C (p.Thr810Pro) rs1447170470
NM_001130438.3(SPTAN1):c.2491G>A (p.Ala831Thr)
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
NM_001130438.3(SPTAN1):c.360A>G (p.Ile120Met)
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.3868A>C (p.Asn1290His) rs1855684326
NM_001130438.3(SPTAN1):c.3910C>T (p.Pro1304Ser)
NM_001130438.3(SPTAN1):c.3985G>A (p.Asp1329Asn)
NM_001130438.3(SPTAN1):c.4220C>G (p.Ala1407Gly) rs1589309661
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn) rs148294757
NM_001130438.3(SPTAN1):c.528G>T (p.Glu176Asp) rs1589179214
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln) rs1858936991
NM_001130438.3(SPTAN1):c.6739G>A (p.Glu2247Lys) rs1859500394

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