ClinVar Miner

List of variants in gene ROBO4 studied for aortic valve disorder

Included ClinVar conditions (28):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp) rs145067866 0.00297
NM_019055.6(ROBO4):c.2092C>A (p.Leu698Met) rs149262190 0.00084
NM_019055.6(ROBO4):c.691T>A (p.Tyr231Asn) rs149517154 0.00026
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279 0.00019
NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys) rs374471211 0.00010
NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys) rs145535350 0.00009
NM_019055.6(ROBO4):c.2171C>T (p.Thr724Ile) rs139537489 0.00008
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) rs150700978 0.00008
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) rs138370967 0.00007
NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys) rs145076728 0.00004
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213 0.00004
NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser) rs529793135 0.00004
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) rs138111911 0.00002
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435 0.00001
NM_019055.6(ROBO4):c.1042_1048dup
NM_019055.6(ROBO4):c.1064C>T (p.Thr355Ile)
NM_019055.6(ROBO4):c.1087G>C (p.Val363Leu)
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.1235T>C (p.Met412Thr)
NM_019055.6(ROBO4):c.1241G>C (p.Gly414Ala)
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val) rs1565325937
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) rs755569942
NM_019055.6(ROBO4):c.184A>G (p.Thr62Ala) rs755088778
NM_019055.6(ROBO4):c.2041del (p.Leu681fs)
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter) rs1044113961
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) rs1565322176
NM_019055.6(ROBO4):c.2723G>A (p.Arg908Gln)
NM_019055.6(ROBO4):c.2896del (p.Val966fs)
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_019055.6(ROBO4):c.746T>C (p.Leu249Pro) rs2497398506
NM_019055.6(ROBO4):c.911G>A (p.Gly304Asp)
NM_019055.6(ROBO4):c.980_981del (p.Ser327fs) rs2497396246

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