ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 24
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880
NM_001130438.3(SPTAN1):c.1886A>G (p.Asp629Gly) rs1589214618
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796
NM_001130438.3(SPTAN1):c.1959G>C (p.Met653Ile)
NM_001130438.3(SPTAN1):c.2091A>G (p.Val697=) rs1589216896
NM_001130438.3(SPTAN1):c.2428A>C (p.Thr810Pro) rs1447170470
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.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His) rs780184944
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101
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.528G>T (p.Glu176Asp) rs1589179214
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323
NM_001130438.3(SPTAN1):c.6739G>A (p.Glu2247Lys)
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085

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