ClinVar Miner

Variants in gene SETD2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.4872T>A (p.Ser1624=) rs75763513 0.01071
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.557C>T (p.Pro186Leu) rs78759480 0.00723
NM_014159.7(SETD2):c.5271C>T (p.Leu1757=) rs144825663 0.00389
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.3229A>G (p.Thr1077Ala) rs114719990 0.00095
NM_014159.7(SETD2):c.1775C>A (p.Thr592Lys) rs115569620 0.00088
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093 0.00088
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179 0.00063
NM_014159.7(SETD2):c.1415G>A (p.Arg472His) rs201984344 0.00050
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.1734A>T (p.Leu578Phe) rs138401612 0.00038
NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn) rs138005965 0.00031
NM_014159.7(SETD2):c.590C>T (p.Ala197Val) rs374950143 0.00029
NM_014159.7(SETD2):c.500C>T (p.Pro167Leu) rs78682369 0.00025
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828 0.00005
NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly) rs201752182 0.00003
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly) rs377066147 0.00002
NM_014159.7(SETD2):c.4918-78AC[17] rs61571386
NM_014159.7(SETD2):c.6110-27_6110-26del rs10589946

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