ClinVar Miner

List of variants in gene SETD2 reported as uncertain significance by Baylor Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.1333C>T (p.Arg445Cys) rs1306620044 0.00001
NM_014159.7(SETD2):c.4451A>T (p.Glu1484Val) rs749482493 0.00001
NM_014159.7(SETD2):c.5633T>C (p.Phe1878Ser) rs587778665 0.00001
NM_014159.7(SETD2):c.1588T>C (p.Cys530Arg) rs527381545
NM_014159.7(SETD2):c.1697C>G (p.Ser566Cys) rs2043162382
NM_014159.7(SETD2):c.2030C>T (p.Pro677Leu) rs766229574
NM_014159.7(SETD2):c.3836G>C (p.Gly1279Ala) rs756174508
NM_014159.7(SETD2):c.4840A>G (p.Ile1614Val) rs2042289966
NM_014159.7(SETD2):c.5278A>C (p.Asn1760His) rs772972461
NM_014159.7(SETD2):c.683C>T (p.Pro228Leu) rs780263835
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)
NM_014159.7(SETD2):c.796C>T (p.His266Tyr)

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