ClinVar Miner

List of variants in gene SETBP1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.4046G>C (p.Ser1349Thr) rs1178340807 0.00004
NM_015559.3(SETBP1):c.2953A>G (p.Ile985Val) rs377267329 0.00002
NM_015559.3(SETBP1):c.2210C>T (p.Pro737Leu) rs753974276 0.00001
NM_015559.3(SETBP1):c.3632A>G (p.Lys1211Arg) rs144471715 0.00001
NM_015559.3(SETBP1):c.4034C>G (p.Thr1345Arg) rs148195272 0.00001
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val) rs1486460574 0.00001
NM_015559.3(SETBP1):c.4175G>C (p.Gly1392Ala) rs773392085 0.00001
NM_015559.3(SETBP1):c.1058A>T (p.Asp353Val)
NM_015559.3(SETBP1):c.1172G>A (p.Ser391Asn)
NM_015559.3(SETBP1):c.1300G>C (p.Glu434Gln) rs2071322955
NM_015559.3(SETBP1):c.1366G>A (p.Glu456Lys) rs2145097367
NM_015559.3(SETBP1):c.1537T>C (p.Ser513Pro)
NM_015559.3(SETBP1):c.1609C>A (p.Pro537Thr)
NM_015559.3(SETBP1):c.161G>C (p.Arg54Pro)
NM_015559.3(SETBP1):c.2027A>G (p.Asn676Ser)
NM_015559.3(SETBP1):c.2041A>G (p.Ile681Val)
NM_015559.3(SETBP1):c.2308G>A (p.Ala770Thr) rs199810775
NM_015559.3(SETBP1):c.2393A>G (p.Asn798Ser)
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) rs2071362354
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.3440T>C (p.Leu1147Pro)
NM_015559.3(SETBP1):c.3712G>A (p.Asp1238Asn)
NM_015559.3(SETBP1):c.3770A>G (p.Asp1257Gly)
NM_015559.3(SETBP1):c.383A>T (p.Glu128Val)
NM_015559.3(SETBP1):c.3887G>A (p.Ser1296Asn)
NM_015559.3(SETBP1):c.4096G>T (p.Ala1366Ser) rs145549368
NM_015559.3(SETBP1):c.427C>G (p.Arg143Gly)
NM_015559.3(SETBP1):c.4389G>C (p.Gln1463His) rs1019850669
NM_015559.3(SETBP1):c.440A>G (p.Asn147Ser)
NM_015559.3(SETBP1):c.4633C>T (p.Pro1545Ser)
NM_015559.3(SETBP1):c.540+7432T>C
NM_015559.3(SETBP1):c.583A>G (p.Thr195Ala)
NM_015559.3(SETBP1):c.79C>T (p.Pro27Ser) rs751389887
NM_015559.3(SETBP1):c.910A>C (p.Ser304Arg)
NM_015559.3(SETBP1):c.931C>A (p.Leu311Ile)

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