ClinVar Miner

List of variants in gene TRIOBP studied for Inborn genetic diseases

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.1964G>A (p.Arg655Gln) rs148083430 0.00167
NM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe) rs200493962 0.00129
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) rs200313246 0.00067
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00034
NM_001039141.3(TRIOBP):c.3926G>A (p.Arg1309His) rs371543013 0.00029
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser) rs397516554 0.00021
NM_001039141.3(TRIOBP):c.5878C>T (p.Arg1960Cys) rs368774500 0.00019
NM_001039141.3(TRIOBP):c.5922G>T (p.Glu1974Asp) rs374754282 0.00010
NM_001039141.3(TRIOBP):c.6123T>A (p.Asn2041Lys) rs372525528 0.00004
NM_001039141.3(TRIOBP):c.6196G>A (p.Glu2066Lys) rs564506970 0.00004
NM_001039141.3(TRIOBP):c.3415C>A (p.Leu1139Ile) rs368173276 0.00003
NM_001039141.3(TRIOBP):c.6242C>T (p.Ala2081Val) rs150499644 0.00003
NM_001039141.3(TRIOBP):c.5891G>A (p.Arg1964His) rs534138620 0.00002
NM_001039141.3(TRIOBP):c.4933G>A (p.Ala1645Thr) rs1427161894 0.00001
NM_001039141.3(TRIOBP):c.1238A>G (p.Lys413Arg)
NM_001039141.3(TRIOBP):c.1241C>T (p.Ala414Val)
NM_001039141.3(TRIOBP):c.1520G>A (p.Arg507Gln)
NM_001039141.3(TRIOBP):c.1892G>T (p.Arg631Leu)
NM_001039141.3(TRIOBP):c.2654G>A (p.Arg885His)
NM_001039141.3(TRIOBP):c.2740A>G (p.Thr914Ala)
NM_001039141.3(TRIOBP):c.2759G>A (p.Arg920Gln)
NM_001039141.3(TRIOBP):c.3026C>G (p.Pro1009Arg)
NM_001039141.3(TRIOBP):c.3359C>A (p.Pro1120His)
NM_001039141.3(TRIOBP):c.3664G>C (p.Asp1222His)
NM_001039141.3(TRIOBP):c.3760G>A (p.Gly1254Ser)
NM_001039141.3(TRIOBP):c.4102C>T (p.Arg1368Trp)
NM_001039141.3(TRIOBP):c.5044G>A (p.Glu1682Lys)
NM_001039141.3(TRIOBP):c.5048A>G (p.Gln1683Arg)
NM_001039141.3(TRIOBP):c.5049G>C (p.Gln1683His)
NM_001039141.3(TRIOBP):c.5285C>T (p.Pro1762Leu)
NM_001039141.3(TRIOBP):c.5714C>T (p.Ala1905Val)
NM_001039141.3(TRIOBP):c.5722A>G (p.Ser1908Gly)
NM_001039141.3(TRIOBP):c.5792G>C (p.Gly1931Ala)
NM_001039141.3(TRIOBP):c.5873G>A (p.Arg1958Gln)
NM_001039141.3(TRIOBP):c.5879G>A (p.Arg1960His)
NM_001039141.3(TRIOBP):c.5995G>C (p.Glu1999Gln)
NM_001039141.3(TRIOBP):c.6011A>T (p.Glu2004Val)
NM_001039141.3(TRIOBP):c.6163G>A (p.Gly2055Arg)
NM_001039141.3(TRIOBP):c.6328G>A (p.Ala2110Thr) rs1302649675
NM_001039141.3(TRIOBP):c.6974A>G (p.Tyr2325Cys)

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