ClinVar Miner

List of variants in gene BIN1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371 0.00005
NM_139343.3(BIN1):c.450C>T (p.Tyr150=) rs550177667 0.00003
NM_139343.3(BIN1):c.393C>T (p.Gly131=) rs1455926606 0.00002
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.84+15G>T rs769721985 0.00001
NM_139343.3(BIN1):c.1017A>C (p.Pro339=)
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) rs2104935838
NM_139343.3(BIN1):c.1227G>A (p.Thr409=)
NM_139343.3(BIN1):c.1515C>T (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.1520A>T (p.Glu507Val) rs1682838921
NM_139343.3(BIN1):c.543C>T (p.Ala181=)
NM_139343.3(BIN1):c.955G>A (p.Ala319Thr) rs1684087820

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