ClinVar Miner

List of variants in gene combination GP1BB, SEPT5-GP1BB reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) rs551140561 0.00003
NM_000407.5(GP1BB):c.212C>T (p.Pro71Leu) rs1424014771 0.00001
NM_000407.5(GP1BB):c.434C>G (p.Pro145Arg) rs1051842719 0.00001
NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro) rs750315624 0.00001
NM_000407.5(GP1BB):c.555_556insA (p.Ala186fs) rs1254692009 0.00001
NM_000407.5(GP1BB):c.106C>T (p.Leu36Phe) rs1601248319
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter) rs536874549
NM_000407.5(GP1BB):c.203C>T (p.Thr68Met) rs1601248530
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del) rs1601248578
NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg) rs1464643023
NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln) rs1601248859
NM_000407.5(GP1BB):c.3G>C (p.Met1Ile) rs1601247763
NM_000407.5(GP1BB):c.407A>G (p.Glu136Gly) rs1601248880
NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro) rs1601248889
NM_000407.5(GP1BB):c.448del (p.Ala150fs) rs1360071443
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup) rs1601249021
NM_000407.5(GP1BB):c.69_83del (p.Ala24_Ala28del) rs1601248245

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