ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) rs368132877 0.00022
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) rs368465960 0.00010
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) rs191985301 0.00008
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828 0.00005
NM_014159.7(SETD2):c.2849G>A (p.Arg950His) rs149265978 0.00004
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu) rs775780402 0.00004
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser) rs372521251 0.00001
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) rs771203643
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)

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