List of variants in gene SMAD4 reported as likely benign for Juvenile polyposis/hereditary hemorrhagic telangiectasia 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: 24

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.*3398A>G	rs182735651	0.00515
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	rs1801250	0.00228
NM_005359.6(SMAD4):c.*4748C>T	rs375580807	0.00175
NM_005359.6(SMAD4):c.*2488T>A	rs148190627	0.00169
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	rs140743238	0.00104
NM_005359.6(SMAD4):c.*2914C>T	rs147352474	0.00075
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00071
NM_005359.6(SMAD4):c.*6009G>C	rs181250637	0.00070
NM_005359.6(SMAD4):c.*4378T>G	rs540039847	0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)	rs7238500	0.00050
NM_005359.6(SMAD4):c.*6492A>T	rs569819237	0.00049
NM_005359.6(SMAD4):c.*4862A>G	rs139595540	0.00045
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)	rs140487104	0.00033
NM_005359.6(SMAD4):c.*5801T>C	rs577928234	0.00021
NM_005359.6(SMAD4):c.*12G>A	rs148687037	0.00010
NM_005359.6(SMAD4):c.424+5G>A	rs200772603	0.00010
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)	rs144378484	0.00008
NM_005359.6(SMAD4):c.667+9T>C	rs776523203	0.00006
NM_005359.6(SMAD4):c.-401C>T	rs555375675	0.00004
NM_005359.6(SMAD4):c.*334C>T	rs534790830	0.00001
NM_005359.6(SMAD4):c.*4643T>C	rs369040052	0.00001
NM_005359.6(SMAD4):c.249+10A>C	rs752243771	0.00001
NM_005359.6(SMAD4):c.249+9T>C	rs770523387	0.00001
NM_005359.6(SMAD4):c.*1864C>A	rs561442548

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