ClinVar Miner

List of variants in gene SETD2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) rs368465960 0.00010
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018 0.00005
NM_014159.7(SETD2):c.1727C>T (p.Thr576Ile) rs752022280 0.00002
NM_014159.7(SETD2):c.316G>A (p.Val106Ile) rs918252164 0.00002
NM_014159.7(SETD2):c.1043A>G (p.Glu348Gly) rs1024103793 0.00001
NM_014159.7(SETD2):c.1166A>G (p.Tyr389Cys) rs2043191929 0.00001
NM_014159.7(SETD2):c.1523G>T (p.Gly508Val) rs768072239 0.00001
NM_014159.7(SETD2):c.1634A>G (p.Tyr545Cys) rs765512793 0.00001
NM_014159.7(SETD2):c.1855A>G (p.Asn619Asp) rs1398723100 0.00001
NM_014159.7(SETD2):c.2342C>T (p.Thr781Met) rs1313153861 0.00001
NM_014159.7(SETD2):c.2702G>C (p.Gly901Ala) rs1194240525 0.00001
NM_014159.7(SETD2):c.4027C>A (p.Gln1343Lys) rs781672875 0.00001
NM_014159.7(SETD2):c.4628G>A (p.Arg1543Gln) rs752011468 0.00001
NM_014159.7(SETD2):c.473C>T (p.Ala158Val) rs994824638 0.00001
NM_014159.7(SETD2):c.5899G>A (p.Gly1967Ser) rs371395770 0.00001
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) rs2041416610 0.00001
NM_014159.7(SETD2):c.881A>T (p.Asp294Val) rs915409808 0.00001
NM_014159.7(SETD2):c.1105T>C (p.Ser369Pro) rs2106706031
NM_014159.7(SETD2):c.1145A>T (p.Lys382Ile) rs1064796875
NM_014159.7(SETD2):c.1153A>G (p.Arg385Gly) rs1224970719
NM_014159.7(SETD2):c.1438T>A (p.Tyr480Asn)
NM_014159.7(SETD2):c.1454C>T (p.Thr485Ile)
NM_014159.7(SETD2):c.1486A>C (p.Lys496Gln)
NM_014159.7(SETD2):c.1601C>T (p.Pro534Leu)
NM_014159.7(SETD2):c.1700A>G (p.Asp567Gly)
NM_014159.7(SETD2):c.1780T>A (p.Cys594Ser)
NM_014159.7(SETD2):c.1885_1887del (p.Lys629del) rs2106686435
NM_014159.7(SETD2):c.1897_1908del (p.Leu633_Phe636del)
NM_014159.7(SETD2):c.2038G>A (p.Glu680Lys) rs2106682546
NM_014159.7(SETD2):c.2047T>A (p.Leu683Met)
NM_014159.7(SETD2):c.2049G>T (p.Leu683Phe)
NM_014159.7(SETD2):c.2093C>T (p.Ser698Phe)
NM_014159.7(SETD2):c.209G>A (p.Arg70Gln) rs2043244124
NM_014159.7(SETD2):c.2105T>G (p.Val702Gly)
NM_014159.7(SETD2):c.2140T>C (p.Cys714Arg) rs2106679915
NM_014159.7(SETD2):c.2254C>G (p.Leu752Val) rs2106677070
NM_014159.7(SETD2):c.2362A>T (p.Thr788Ser)
NM_014159.7(SETD2):c.2504T>C (p.Ile835Thr)
NM_014159.7(SETD2):c.2700C>G (p.Cys900Trp)
NM_014159.7(SETD2):c.2751T>A (p.Ser917Arg)
NM_014159.7(SETD2):c.2866G>A (p.Gly956Arg) rs1378974840
NM_014159.7(SETD2):c.2909T>G (p.Leu970Trp) rs2106659081
NM_014159.7(SETD2):c.2930C>T (p.Pro977Leu) rs2106658454
NM_014159.7(SETD2):c.3064G>A (p.Asp1022Asn)
NM_014159.7(SETD2):c.3214G>A (p.Val1072Met)
NM_014159.7(SETD2):c.3406G>A (p.Gly1136Arg) rs1305587765
NM_014159.7(SETD2):c.3545G>A (p.Gly1182Asp)
NM_014159.7(SETD2):c.3607C>T (p.Pro1203Ser) rs2107748847
NM_014159.7(SETD2):c.3682A>G (p.Ser1228Gly) rs1294397889
NM_014159.7(SETD2):c.3793G>A (p.Glu1265Lys)
NM_014159.7(SETD2):c.3896A>C (p.Tyr1299Ser) rs2107745387
NM_014159.7(SETD2):c.3913T>C (p.Tyr1305His) rs2107745196
NM_014159.7(SETD2):c.3932G>A (p.Gly1311Asp)
NM_014159.7(SETD2):c.3946A>C (p.Thr1316Pro)
NM_014159.7(SETD2):c.3946A>G (p.Thr1316Ala) rs2043040689
NM_014159.7(SETD2):c.4093G>A (p.Gly1365Arg) rs772882978
NM_014159.7(SETD2):c.440A>T (p.His147Leu)
NM_014159.7(SETD2):c.4483A>C (p.Lys1495Gln) rs1553699113
NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln) rs1553699111
NM_014159.7(SETD2):c.452T>C (p.Val151Ala) rs2106722113
NM_014159.7(SETD2):c.4595G>A (p.Arg1532Gln) rs2107720003
NM_014159.7(SETD2):c.4634A>G (p.Gln1545Arg)
NM_014159.7(SETD2):c.4819A>G (p.Met1607Val)
NM_014159.7(SETD2):c.5060G>T (p.Gly1687Val)
NM_014159.7(SETD2):c.5398-13T>A rs1553690514
NM_014159.7(SETD2):c.5542A>G (p.Thr1848Ala) rs1575745202
NM_014159.7(SETD2):c.5585C>G (p.Thr1862Ser)
NM_014159.7(SETD2):c.5627T>C (p.Leu1876Pro)
NM_014159.7(SETD2):c.5660A>G (p.Asn1887Ser)
NM_014159.7(SETD2):c.5738A>C (p.Glu1913Ala)
NM_014159.7(SETD2):c.5752G>A (p.Glu1918Lys)
NM_014159.7(SETD2):c.622G>A (p.Val208Ile)
NM_014159.7(SETD2):c.6239C>G (p.Ser2080Cys) rs2107588983
NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe) rs1553685117
NM_014159.7(SETD2):c.6305C>T (p.Pro2102Leu)
NM_014159.7(SETD2):c.6329T>C (p.Ile2110Thr)
NM_014159.7(SETD2):c.6445C>A (p.Pro2149Thr)
NM_014159.7(SETD2):c.6543C>A (p.Asn2181Lys)
NM_014159.7(SETD2):c.6641C>T (p.Thr2214Ile)
NM_014159.7(SETD2):c.6793G>A (p.Val2265Ile) rs2040110568
NM_014159.7(SETD2):c.6821A>C (p.Asp2274Ala) rs373366089
NM_014159.7(SETD2):c.7001A>G (p.Gln2334Arg) rs2107549649
NM_014159.7(SETD2):c.7021C>T (p.Pro2341Ser)
NM_014159.7(SETD2):c.7030G>T (p.Val2344Leu) rs754588966
NM_014159.7(SETD2):c.7096C>T (p.Pro2366Ser)
NM_014159.7(SETD2):c.7168G>A (p.Val2390Ile) rs1468250923
NM_014159.7(SETD2):c.7210A>G (p.Lys2404Glu) rs2107539392
NM_014159.7(SETD2):c.7242G>T (p.Gln2414His)
NM_014159.7(SETD2):c.7249T>C (p.Trp2417Arg)
NM_014159.7(SETD2):c.7447G>T (p.Val2483Phe) rs141852778
NM_014159.7(SETD2):c.7642A>G (p.Met2548Val)
NM_014159.7(SETD2):c.7688del (p.Glu2562_Leu2563insTer)
NM_014159.7(SETD2):c.79G>C (p.Glu27Gln)

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