ClinVar Miner

List of variants in gene SETD2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.7098+320C>T rs138535378 0.03035
NM_014159.7(SETD2):c.72-66A>G rs11717033 0.02941
NM_014159.7(SETD2):c.7238+269G>C rs79545841 0.02795
NM_014159.7(SETD2):c.6110-302A>G rs151302053 0.01455
NM_014159.7(SETD2):c.4872T>A (p.Ser1624=) rs75763513 0.01071
NM_014159.7(SETD2):c.5278-257A>T rs6771992 0.00956
NM_014159.7(SETD2):c.5143-47T>G rs183862100 0.00948
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.72-152dup rs200216979 0.00789
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu) rs78759480 0.00723
NM_014159.7(SETD2):c.6060+266C>T rs181463154 0.00693
NM_014159.7(SETD2):c.7432-102A>T rs150163751 0.00688
NM_014159.7(SETD2):c.4586+123A>T rs183601200 0.00652
NM_014159.7(SETD2):c.7238+53G>A rs139159960 0.00560
NM_014159.7(SETD2):c.4918-76A>G rs932394374 0.00409
NM_014159.7(SETD2):c.5277+117A>G rs138282303 0.00369
NM_014159.7(SETD2):c.5143-240T>G rs529665591 0.00366
NM_014159.7(SETD2):c.7098+235C>T rs144641521 0.00305
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_014159.7(SETD2):c.5143-20A>G rs201987175 0.00123
NM_014159.7(SETD2):c.265C>T (p.Leu89Phe) rs374799616 0.00014
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly) rs377066147 0.00002
NM_014159.7(SETD2):c.2024G>A (p.Gly675Glu) rs568134733 0.00001
NM_014159.7(SETD2):c.4839+72dup rs55987628
NM_014159.7(SETD2):c.4918-78AC[20] rs61571386
NM_014159.7(SETD2):c.5397+335_5397+336del rs140225710
NM_014159.7(SETD2):c.5398-60dup rs5848822
NM_014159.7(SETD2):c.6061-314_6061-313dup rs548953692
NM_014159.7(SETD2):c.6110-39dup rs10589946
NM_014159.7(SETD2):c.6293+4dup rs533328208
NM_014159.7(SETD2):c.6963+5C>G rs1553683838

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