ClinVar Miner

List of variants in gene ABCC8 reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg) rs748233295 0.00001
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val) rs776100468 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro) rs2133402479
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn) rs2133394860
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly) rs2133393241
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys) rs2133680513
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn) rs2133680501
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749

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