List of variants in gene SOX11 reported as pathogenic for Coffin-Siris syndrome

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter)	rs1057518672
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)
NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)	rs2103276340
NM_003108.4(SOX11):c.176G>A (p.Trp59Ter)
NM_003108.4(SOX11):c.178T>C (p.Ser60Pro)	rs587777480
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)	rs1665660543
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)	rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)	rs587777479
NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser)	rs1572216329
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)	rs780122780
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter)	rs1553327954
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)

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