ClinVar Miner

List of variants in gene BIN1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_139343.3(BIN1):c.1611C>T (p.Asp537=) rs142523172 0.00101
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1353C>T (p.Ala451=) rs552244334 0.00006
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371 0.00005
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) rs886043420
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878

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