List of variants in gene SETD2 reported as uncertain significance for SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014159.7(SETD2):c.664C>A (p.Leu222Ile)	rs192262279	0.00033
NM_014159.7(SETD2):c.1202G>A (p.Arg401Gln)	rs374918549	0.00006
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr)	rs114527197	0.00005
NM_014159.7(SETD2):c.3168G>A (p.Ser1056=)	rs768944836	0.00003
NM_014159.7(SETD2):c.4262T>C (p.Leu1421Pro)	rs587778677	0.00003
NM_014159.7(SETD2):c.1523G>T (p.Gly508Val)	rs768072239	0.00001
NM_014159.7(SETD2):c.2589T>A (p.Ser863=)	rs759801297	0.00001
NM_014159.7(SETD2):c.435G>C (p.Lys145Asn)	rs749274416	0.00001
NM_014159.7(SETD2):c.4612T>A (p.Tyr1538Asn)	rs2042756676	0.00001
NM_014159.7(SETD2):c.3169G>A (p.Asp1057Asn)
NM_014159.7(SETD2):c.4427T>C (p.Ile1476Thr)
NM_014159.7(SETD2):c.4840-1G>A
NM_014159.7(SETD2):c.5369G>A (p.Arg1790Gln)
NM_014159.7(SETD2):c.796C>T (p.His266Tyr)	rs1320353083

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