ClinVar Miner

List of variants in gene SPTBN1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_003128.3(SPTBN1):c.4495-8C>T rs182261480 0.00406
NM_003128.3(SPTBN1):c.3993C>A (p.Asp1331Glu) rs144815582 0.00405
NM_003128.3(SPTBN1):c.764-4A>G rs141959769 0.00145
NM_003128.3(SPTBN1):c.105C>T (p.Ser35=) rs111350284 0.00078
NM_003128.3(SPTBN1):c.3354C>T (p.Tyr1118=) rs2229502 0.00074
NM_003128.3(SPTBN1):c.3677A>G (p.Asn1226Ser) rs147205482 0.00046
NM_003128.3(SPTBN1):c.6959C>T (p.Thr2320Met) rs112558321 0.00040
NM_003128.3(SPTBN1):c.336C>T (p.Cys112=) rs200136972 0.00017
NM_003128.3(SPTBN1):c.2601G>A (p.Glu867=) rs376697382 0.00010
NM_003128.3(SPTBN1):c.6105A>C (p.Gly2035=) rs148763642 0.00008
NM_003128.3(SPTBN1):c.2310C>T (p.Ser770=) rs561440607 0.00006
NM_003128.3(SPTBN1):c.1953A>G (p.Glu651=) rs775458851 0.00005
NM_003128.3(SPTBN1):c.1749G>A (p.Arg583=) rs372321379 0.00003
NM_003128.3(SPTBN1):c.1770C>T (p.Ser590=) rs375130631 0.00003
NM_003128.3(SPTBN1):c.4800C>T (p.Asp1600=) rs372387702 0.00003
NM_003128.3(SPTBN1):c.6150C>T (p.Asp2050=) rs768876446 0.00003
NM_003128.3(SPTBN1):c.2049C>T (p.Phe683=) rs978175840 0.00001
NM_003128.3(SPTBN1):c.3261G>C (p.Ser1087=) rs568530945 0.00001
NM_003128.3(SPTBN1):c.6744C>G (p.Pro2248=) rs1558486018 0.00001
NM_003128.3(SPTBN1):c.1422C>T (p.Tyr474=)
NM_003128.3(SPTBN1):c.1490A>G (p.Lys497Arg)
NM_003128.3(SPTBN1):c.1502C>T (p.Ala501Val)
NM_003128.3(SPTBN1):c.1569G>C (p.Arg523=)
NM_003128.3(SPTBN1):c.165G>C (p.Val55=) rs2549468220
NM_003128.3(SPTBN1):c.1989G>A (p.Ser663=)
NM_003128.3(SPTBN1):c.2117C>T (p.Ala706Val)
NM_003128.3(SPTBN1):c.2136G>A (p.Ser712=)
NM_003128.3(SPTBN1):c.282C>T (p.Val94=)
NM_003128.3(SPTBN1):c.3306G>A (p.Thr1102=)
NM_003128.3(SPTBN1):c.5262C>T (p.Arg1754=)
NM_003128.3(SPTBN1):c.6075C>T (p.Asp2025=)
NM_003128.3(SPTBN1):c.6309C>T (p.Pro2103=)
NM_003128.3(SPTBN1):c.6444C>T (p.Ser2148=)
NM_003128.3(SPTBN1):c.687C>T (p.Asn229=)
NM_003128.3(SPTBN1):c.6978G>A (p.Ala2326=)
NM_003128.3(SPTBN1):c.6997G>A (p.Val2333Ile)
NM_003128.3(SPTBN1):c.699C>T (p.Asn233=)
NM_003128.3(SPTBN1):c.7026C>G (p.Pro2342=) rs2229504

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