ClinVar Miner

List of variants in gene SETD2 reported by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.2028del (p.Pro677fs) rs869025572
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln) rs2107651195
NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp) rs869025570
NM_014159.7(SETD2):c.6341del (p.Asn2114fs) rs869025569
NM_014159.7(SETD2):c.820C>T (p.Gln274Ter) rs869025571

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