ClinVar Miner

List of variants in gene SETD2 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 80
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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.5271C>T (p.Leu1757=) rs144825663 0.00389
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.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_014159.7(SETD2):c.5143-20A>G rs201987175 0.00123
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 0.00095
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093 0.00088
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=) rs144752494 0.00047
NM_014159.7(SETD2):c.7500C>T (p.Thr2500=) rs148499835 0.00036
NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr) rs145732065 0.00032
NM_014159.7(SETD2):c.6786C>T (p.Pro2262=) rs149552397 0.00032
NM_014159.7(SETD2):c.1986A>G (p.Gln662=) rs146562413 0.00026
NM_014159.7(SETD2):c.6455A>G (p.Tyr2152Cys) rs139628048 0.00024
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) rs368132877 0.00022
NM_014159.7(SETD2):c.1412G>A (p.Arg471Lys) rs191313431 0.00021
NM_014159.7(SETD2):c.7350+6T>C rs369951554 0.00015
NM_014159.7(SETD2):c.265C>T (p.Leu89Phe) rs374799616 0.00014
NM_014159.7(SETD2):c.558G>A (p.Pro186=) rs183095591 0.00012
NM_014159.7(SETD2):c.7060A>G (p.Thr2354Ala) rs145377213 0.00012
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_014159.7(SETD2):c.2849G>A (p.Arg950His) rs149265978 0.00004
NM_014159.7(SETD2):c.6810T>C (p.Tyr2270=) rs114332101 0.00004
NM_014159.7(SETD2):c.1914C>T (p.Ser638=) rs1371836213 0.00003
NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly) rs201752182 0.00003
NM_014159.7(SETD2):c.475A>G (p.Thr159Ala) rs369333306 0.00003
NM_014159.7(SETD2):c.5427T>C (p.Ile1809=) rs762759698 0.00003
NM_014159.7(SETD2):c.5040C>T (p.Cys1680=) rs764385874 0.00002
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly) rs377066147 0.00002
NM_014159.7(SETD2):c.7239-8C>T rs375557161 0.00002
NM_014159.7(SETD2):c.1603A>G (p.Asn535Asp) rs778603109 0.00001
NM_014159.7(SETD2):c.2024G>A (p.Gly675Glu) rs568134733 0.00001
NM_014159.7(SETD2):c.3316T>C (p.Leu1106=) rs779666460 0.00001
NM_014159.7(SETD2):c.3621T>C (p.Ser1207=) rs577048438 0.00001
NM_014159.7(SETD2):c.4680A>G (p.Lys1560=) rs780684040 0.00001
NM_014159.7(SETD2):c.5549G>C (p.Arg1850Pro) rs1341433062 0.00001
NM_014159.7(SETD2):c.6090A>G (p.Gln2030=) rs758026999 0.00001
NM_014159.7(SETD2):c.1899G>A (p.Leu633=) rs1575816326
NM_014159.7(SETD2):c.1962T>C (p.Ser654=) rs1575816201
NM_014159.7(SETD2):c.2205C>G (p.Thr735=) rs1398507583
NM_014159.7(SETD2):c.2871A>G (p.Lys957=)
NM_014159.7(SETD2):c.3334T>C (p.Leu1112=) rs1487228978
NM_014159.7(SETD2):c.3441G>A (p.Gln1147=)
NM_014159.7(SETD2):c.3458T>C (p.Ile1153Thr)
NM_014159.7(SETD2):c.4137C>T (p.Asp1379=) rs769080716
NM_014159.7(SETD2):c.4200T>C (p.Asp1400=)
NM_014159.7(SETD2):c.4332G>A (p.Leu1444=)
NM_014159.7(SETD2):c.4839+72dup rs55987628
NM_014159.7(SETD2):c.4918-78AC[20] rs61571386
NM_014159.7(SETD2):c.5322T>C (p.His1774=)
NM_014159.7(SETD2):c.5385G>A (p.Lys1795=) rs772800229
NM_014159.7(SETD2):c.5397+335_5397+336del rs140225710
NM_014159.7(SETD2):c.5398-60dup rs5848822
NM_014159.7(SETD2):c.5574T>C (p.Pro1858=)
NM_014159.7(SETD2):c.5872G>C (p.Ala1958Pro) rs377115716
NM_014159.7(SETD2):c.5949_5951del (p.Glu1985del) rs2107638020
NM_014159.7(SETD2):c.6061-314_6061-313dup rs548953692
NM_014159.7(SETD2):c.6110-39dup rs10589946
NM_014159.7(SETD2):c.772A>G (p.Thr258Ala)
NM_014159.7(SETD2):c.985C>A (p.Arg329=) rs372869995

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