ClinVar Miner

List of variants in gene SETD2 reported as uncertain significance by New York Genome Center

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.3659C>A (p.Thr1220Asn) rs764195998 0.00021
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) rs368465960 0.00010
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln) rs564020755 0.00006
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys) rs369421455 0.00006
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) rs114527197 0.00005
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018 0.00005
NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn) rs1366338930 0.00004
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu) rs775780402 0.00004
NM_014159.7(SETD2):c.1833G>T (p.Lys611Asn) rs575862721 0.00003
NM_014159.7(SETD2):c.827A>G (p.Asp276Gly) rs1456190392 0.00002
NM_014159.7(SETD2):c.1256A>G (p.Tyr419Cys) rs546591954 0.00001
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser) rs372521251 0.00001
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) rs2041416610 0.00001
NM_014159.7(SETD2):c.1496C>T (p.Thr499Ile) rs2043173937
NM_014159.7(SETD2):c.1745T>C (p.Ile582Thr) rs2043159637
NM_014159.7(SETD2):c.2070A>C (p.Lys690Asn)
NM_014159.7(SETD2):c.2188A>G (p.Lys730Glu)
NM_014159.7(SETD2):c.2320G>C (p.Val774Leu) rs2043131227
NM_014159.7(SETD2):c.3565A>T (p.Thr1189Ser) rs2043064109
NM_014159.7(SETD2):c.419G>A (p.Gly140Asp) rs2043233709
NM_014159.7(SETD2):c.5365G>A (p.Gly1789Ser)
NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser)
NM_014159.7(SETD2):c.6110C>T (p.Thr2037Ile) rs914740277
NM_014159.7(SETD2):c.638C>G (p.Ala213Gly)
NM_014159.7(SETD2):c.6917A>G (p.Tyr2306Cys)
NM_014159.7(SETD2):c.999T>G (p.Ser333Arg)

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