List of variants in gene SMAD4 reported as benign for Juvenile polyposis 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.905-52A>G	rs948589	0.05280
NM_005359.6(SMAD4):c.455-43A>T	rs149541014	0.00759
NM_005359.6(SMAD4):c.455-6A>G	rs181178864	0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)	rs145988618	0.00268
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	rs1801250	0.00228
NM_005359.6(SMAD4):c.1140-10T>C	rs186332162	0.00221
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	rs140743238	0.00104
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00071
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)	rs140487104	0.00033
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)	rs146104321	0.00032
NM_005359.6(SMAD4):c.1140-10del	rs763877987
NM_005359.6(SMAD4):c.1309-2del
NM_005359.6(SMAD4):c.249+21dup	rs1568203059
NM_005359.6(SMAD4):c.250-5del
NM_005359.6(SMAD4):c.787+21dup	rs1312566534
NM_005359.6(SMAD4):c.904+16dup	rs759701996
NM_005359.6(SMAD4):c.904+35T>A

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