ClinVar Miner

List of variants in gene SETD2 reported as uncertain significance by Ambry Genetics

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu) rs775780402 0.00004
NM_014159.7(SETD2):c.1103G>A (p.Arg368Gln) rs1385695873 0.00002
NM_014159.7(SETD2):c.3586T>C (p.Ser1196Pro) rs770731608 0.00002
NM_014159.7(SETD2):c.3908A>G (p.Asn1303Ser) rs574705730 0.00002
NM_014159.7(SETD2):c.3251G>A (p.Ser1084Asn) rs753435281 0.00001
NM_014159.7(SETD2):c.3371C>T (p.Ala1124Val) rs538871720 0.00001
NM_014159.7(SETD2):c.5818A>G (p.Ser1940Gly) rs115156486 0.00001
NM_014159.7(SETD2):c.881A>T (p.Asp294Val) rs915409808 0.00001
NM_014159.7(SETD2):c.1202G>T (p.Arg401Leu)
NM_014159.7(SETD2):c.1483T>C (p.Cys495Arg)
NM_014159.7(SETD2):c.1582A>G (p.Lys528Glu)
NM_014159.7(SETD2):c.1608A>T (p.Glu536Asp)
NM_014159.7(SETD2):c.165G>T (p.Leu55Phe)
NM_014159.7(SETD2):c.1846G>A (p.Ala616Thr)
NM_014159.7(SETD2):c.1847C>G (p.Ala616Gly)
NM_014159.7(SETD2):c.1899G>C (p.Leu633Phe)
NM_014159.7(SETD2):c.2123C>T (p.Ser708Phe)
NM_014159.7(SETD2):c.2483A>G (p.His828Arg)
NM_014159.7(SETD2):c.2537A>T (p.Lys846Ile)
NM_014159.7(SETD2):c.2600T>C (p.Phe867Ser)
NM_014159.7(SETD2):c.2885C>G (p.Ala962Gly)
NM_014159.7(SETD2):c.2947G>A (p.Glu983Lys)
NM_014159.7(SETD2):c.3012T>G (p.Asp1004Glu)
NM_014159.7(SETD2):c.3067A>G (p.Ser1023Gly)
NM_014159.7(SETD2):c.3143A>C (p.Glu1048Ala)
NM_014159.7(SETD2):c.3220A>G (p.Lys1074Glu)
NM_014159.7(SETD2):c.3299A>G (p.His1100Arg)
NM_014159.7(SETD2):c.3321G>T (p.Glu1107Asp)
NM_014159.7(SETD2):c.3358A>C (p.Ile1120Leu)
NM_014159.7(SETD2):c.3497A>G (p.Asp1166Gly)
NM_014159.7(SETD2):c.3506A>G (p.Asp1169Gly) rs1291041398
NM_014159.7(SETD2):c.3719C>A (p.Ser1240Tyr)
NM_014159.7(SETD2):c.3729A>G (p.Ile1243Met)
NM_014159.7(SETD2):c.3742G>A (p.Gly1248Ser) rs955793443
NM_014159.7(SETD2):c.3854A>C (p.Lys1285Thr)
NM_014159.7(SETD2):c.3860A>C (p.Gln1287Pro) rs1553700083
NM_014159.7(SETD2):c.4042C>T (p.His1348Tyr)
NM_014159.7(SETD2):c.4112A>G (p.Glu1371Gly)
NM_014159.7(SETD2):c.4305G>T (p.Glu1435Asp)
NM_014159.7(SETD2):c.436A>G (p.Lys146Glu)
NM_014159.7(SETD2):c.4587-3C>T
NM_014159.7(SETD2):c.4715+5G>A
NM_014159.7(SETD2):c.5060G>T (p.Gly1687Val)
NM_014159.7(SETD2):c.5114A>G (p.Lys1705Arg)
NM_014159.7(SETD2):c.5467A>G (p.Ile1823Val)
NM_014159.7(SETD2):c.5858A>G (p.Glu1953Gly)
NM_014159.7(SETD2):c.5872G>C (p.Ala1958Pro) rs377115716
NM_014159.7(SETD2):c.596C>T (p.Ala199Val)
NM_014159.7(SETD2):c.6158C>T (p.Ala2053Val)
NM_014159.7(SETD2):c.6167C>T (p.Thr2056Ile) rs2040367777
NM_014159.7(SETD2):c.6224G>C (p.Arg2075Thr)
NM_014159.7(SETD2):c.6425A>G (p.Gln2142Arg)
NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu) rs745996964
NM_014159.7(SETD2):c.6901A>G (p.Thr2301Ala)

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