List of variants reported as likely pathogenic for aortic valve disorder

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 72

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HGVS	dbSNP	gnomAD frequency
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	rs201393279	0.00019
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)	rs150700978	0.00009
NM_000501.4(ELN):c.1150+1G>A	rs727503030	0.00006
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)	rs138370967	0.00006
NM_000501.4(ELN):c.164-2A>C	rs782096458	0.00004
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)	rs201492213	0.00004
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)	rs755747435	0.00003
NM_000501.4(ELN):c.1577-2A>T	rs1230920104	0.00001
NM_000501.4(ELN):c.1994-2A>C	rs1440841207	0.00001
NM_000501.4(ELN):c.2032+1G>A	rs781859711	0.00001
NM_000501.4(ELN):c.686-2A>G	rs782390271	0.00001
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)	rs138111911	0.00001
NC_000012.11:g.(?_114803950)_(114823392_?)dup
NC_012920.1:m.8950G>A	rs1556423574
NM_000501.2(ELN):c.1153delG	rs727503031
NM_000501.4(ELN):c.1069_1091del (p.Ala357fs)
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	rs199621188
NM_000501.4(ELN):c.1245dup (p.Gly416fs)	rs1795220933
NM_000501.4(ELN):c.1414+1G>C
NM_000501.4(ELN):c.1576+1G>A	rs782674700
NM_000501.4(ELN):c.1576+2T>A
NM_000501.4(ELN):c.1621+1G>A	rs782279081
NM_000501.4(ELN):c.166del (p.Leu56fs)	rs2131266202
NM_000501.4(ELN):c.1733del (p.Pro578fs)	rs727503782
NM_000501.4(ELN):c.1747+100G>C
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)	rs727503034
NM_000501.4(ELN):c.1919-1G>A	rs1797218441
NM_000501.4(ELN):c.2033-1G>C
NM_000501.4(ELN):c.2151del (p.Ala718fs)	rs2132828209
NM_000501.4(ELN):c.326-1G>T
NM_000501.4(ELN):c.377-1G>T	rs1554669774
NM_000501.4(ELN):c.470-37_470del	rs1563793627
NM_000501.4(ELN):c.542-1G>C
NM_000501.4(ELN):c.542-2A>T	rs782528759
NM_000501.4(ELN):c.643+1G>C	rs1131691482
NM_000501.4(ELN):c.686-1G>A	rs1583818183
NM_000501.4(ELN):c.741del (p.Thr248fs)	rs727503026
NM_000501.4(ELN):c.746-2A>T
NM_000501.4(ELN):c.889+1G>C	rs782238674
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	rs1057518422
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)	rs1057518788
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)	rs900988907
NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)	rs1893037722
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)	rs760571406
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)	rs1259557323
NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter)	rs2140596481
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)	rs863224901
NM_017617.5(NOTCH1):c.3171+1_5935-1del
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter)
NM_017617.5(NOTCH1):c.389del (p.Pro130fs)	rs1843413593
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)	rs1843055667
NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp)
NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter)
NM_019055.6(ROBO4):c.1146C>G (p.Tyr382Ter)	rs2135378156
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)	rs1565326476
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)	rs755569942
NM_019055.6(ROBO4):c.2056+1G>T	rs764038221
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)	rs1565322176
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)	rs779392207
NM_019055.6(ROBO4):c.980_981del (p.Ser327fs)
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
NM_181486.4(TBX5):c.243-1G>A	rs1871673582
NM_181486.4(TBX5):c.363-2A>G	rs1565941072
NM_181486.4(TBX5):c.486C>A (p.Asn162Lys)	rs2136416601
NM_181486.4(TBX5):c.511-1del
NM_181486.4(TBX5):c.658_660del (p.His220del)	rs1871328960
NM_181486.4(TBX5):c.756-2A>G	rs1869545659

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