ClinVar Miner

List of variants in gene IBA57 studied for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) rs199781237 0.00072
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) rs149136930 0.00071
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln) rs765179856 0.00027
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) rs370640121 0.00007
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) rs1191467500 0.00001
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp) rs368114681 0.00001
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala) rs769063859 0.00001
NM_001010867.4(IBA57):c.827G>A (p.Arg276His) rs1245306816 0.00001
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) rs150912462
NM_001010867.4(IBA57):c.104C>A (p.Ser35Tyr)
NM_001010867.4(IBA57):c.109A>G (p.Ser37Gly)
NM_001010867.4(IBA57):c.246T>A (p.Ser82Arg)
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
NM_001010867.4(IBA57):c.323A>G (p.Tyr108Cys)
NM_001010867.4(IBA57):c.421G>A (p.Ala141Thr)
NM_001010867.4(IBA57):c.422C>G (p.Ala141Gly)
NM_001010867.4(IBA57):c.422C>T (p.Ala141Val)
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)
NM_001010867.4(IBA57):c.511G>C (p.Gly171Arg)
NM_001010867.4(IBA57):c.550A>G (p.Ile184Val)
NM_001010867.4(IBA57):c.584G>C (p.Gly195Ala)
NM_001010867.4(IBA57):c.682G>A (p.Val228Ile)
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu) rs777266229
NM_001010867.4(IBA57):c.763T>C (p.Phe255Leu)
NM_001010867.4(IBA57):c.7A>G (p.Thr3Ala)
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)
NM_001010867.4(IBA57):c.89G>A (p.Arg30His) rs2034841698
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)

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