ClinVar Miner

List of variants in gene BIN1 reported as uncertain significance by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.858-1466T>C rs148473945 0.00041
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_139343.3(BIN1):c.1264-5A>C rs541219767 0.00009
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
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.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1119C>T (p.Thr373=) rs1444368852 0.00001
NM_139343.3(BIN1):c.1435G>C (p.Glu479Gln) rs865803817 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.1120A>G (p.Thr374Ala)
NM_139343.3(BIN1):c.1139C>T (p.Ala380Val) rs1553453967
NM_139343.3(BIN1):c.1263+2T>C
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1397_1414del (p.Gly466_Ala471del) rs1553450921
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.315+5_315+6delinsAG rs1064796106
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.614C>T (p.Ala205Val)
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.775-6C>G rs753202898
NM_139343.3(BIN1):c.853C>T (p.Pro285Ser) rs958559973
NM_139343.3(BIN1):c.857+1473A>G

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