ClinVar Miner

List of variants in gene SETD2 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179 0.00063
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928 0.00031
NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr) rs137871492 0.00028
NM_014159.7(SETD2):c.5316A>G (p.Glu1772=) rs141027201 0.00014
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_014159.7(SETD2):c.3890G>A (p.Arg1297His) rs370953553 0.00004
NM_014159.7(SETD2):c.3168G>A (p.Ser1056=) rs768944836 0.00003
NM_014159.7(SETD2):c.1798T>G (p.Leu600Val) rs372547666 0.00002
NM_014159.7(SETD2):c.2988A>G (p.Ser996=) rs772906890 0.00002
NM_014159.7(SETD2):c.2002C>G (p.Pro668Ala) rs1423191971 0.00001
NM_014159.7(SETD2):c.2431A>G (p.Asn811Asp) rs1015887716 0.00001
NM_014159.7(SETD2):c.2997A>G (p.Val999=) rs1387514420 0.00001
NM_014159.7(SETD2):c.916G>A (p.Gly306Ser) rs956929386 0.00001
NM_014159.7(SETD2):c.4918-78AC[17] rs61571386
NM_014159.7(SETD2):c.5268A>G (p.Glu1756=) rs752039809
NM_014159.7(SETD2):c.5475A>C (p.Gln1825His) rs761473538
NM_014159.7(SETD2):c.6110-27_6110-26del rs10589946

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