ClinVar Miner

List of variants studied for GAPO syndrome

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_032208.3(ANTXR1):c.703+78T>G rs4241348 0.93937
NM_032208.3(ANTXR1):c.643-66G>A rs4854546 0.92047
NM_032208.3(ANTXR1):c.1185+16C>A rs6749826 0.45542
NM_032208.3(ANTXR1):c.379-69T>C rs13030844 0.41577
NM_032208.3(ANTXR1):c.873-76T>A rs11126217 0.37565
NM_032208.3(ANTXR1):c.802+46A>G rs6710260 0.33620
NM_032208.3(ANTXR1):c.642+99T>C rs7424907 0.11724
NM_032208.3(ANTXR1):c.492+10G>A rs10202939 0.11594
NM_032208.3(ANTXR1):c.413-61G>A rs548701918 0.11514
NM_032208.3(ANTXR1):c.413-65_413-63del rs67110959 0.11512
NM_032208.3(ANTXR1):c.413-67G>C rs57008189 0.11511
NM_032208.3(ANTXR1):c.153-42G>A rs4366940 0.05922
NM_032208.3(ANTXR1):c.224+81A>G rs4527236 0.04443
NM_032208.3(ANTXR1):c.152+89G>C rs116312139 0.03682
NM_032208.3(ANTXR1):c.379-32T>G rs77557115 0.03102
NM_032208.3(ANTXR1):c.1105G>A (p.Gly369Ser) rs769332274 0.00001
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.3(ANTXR1):c.1434+1G>A
NM_032208.3(ANTXR1):c.1434+45_1434+46insTCAC rs57847359
NM_032208.3(ANTXR1):c.1434+49T>C rs7584057
NM_032208.3(ANTXR1):c.1435-12A>G rs879255533
NM_032208.3(ANTXR1):c.262C>T (p.Arg88Ter) rs397514701
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032208.3(ANTXR1):c.561+6G>A
NM_032208.3(ANTXR1):c.568del (p.Arg190fs)
NM_032208.3(ANTXR1):c.659G>C (p.Cys220Ser)
NM_032208.3(ANTXR1):c.80G>T (p.Gly27Val) rs1558726190

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