ClinVar Miner

List of variants in gene IBA57 reported as uncertain significance by GeneDx

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Total variants: 27
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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.574G>A (p.Ala192Thr) rs140163897 0.00035
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe) rs367545710 0.00034
NM_001010867.4(IBA57):c.680-5T>A rs577050962 0.00008
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) rs370640121 0.00007
NM_001010867.4(IBA57):c.341+4A>G rs536036624 0.00004
NM_001010867.4(IBA57):c.337T>C (p.Tyr113His) rs1085307519 0.00001
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val) rs745621556 0.00001
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala) rs769063859 0.00001
NM_001010867.4(IBA57):c.833G>T (p.Arg278Leu) rs751210041 0.00001
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) rs150912462
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser) rs150912462
NM_001010867.4(IBA57):c.123C>T (p.Asp41=)
NM_001010867.4(IBA57):c.176T>G (p.Leu59Arg)
NM_001010867.4(IBA57):c.340G>T (p.Gly114Trp)
NM_001010867.4(IBA57):c.389G>T (p.Ser130Ile)
NM_001010867.4(IBA57):c.449C>T (p.Thr150Met) rs2527918540
NM_001010867.4(IBA57):c.461A>C (p.His154Pro)
NM_001010867.4(IBA57):c.515C>A (p.Ala172Asp)
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu) rs1403342810
NM_001010867.4(IBA57):c.613C>T (p.Pro205Ser)
NM_001010867.4(IBA57):c.617C>T (p.Ala206Val)
NM_001010867.4(IBA57):c.640G>C (p.Gly214Arg)
NM_001010867.4(IBA57):c.664C>G (p.His222Asp) rs1131691510
NM_001010867.4(IBA57):c.688G>A (p.Glu230Lys)
NM_001010867.4(IBA57):c.695T>C (p.Val232Ala) rs1571918874

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