ClinVar Miner

List of variants in gene POR studied for Antley-Bixler syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP
NM_000941.2(POR):c.*137G>A rs886062443
NM_000941.2(POR):c.*150_*152delCTC rs886062444
NM_000941.2(POR):c.*179G>A rs184275273
NM_000941.2(POR):c.*21C>A rs782245884
NM_000941.2(POR):c.*240C>T rs13921
NM_000941.2(POR):c.*291G>A rs886062445
NM_000941.2(POR):c.*306G>A rs17685
NM_000941.2(POR):c.*60C>T rs72557960
NM_000941.2(POR):c.*76G>A rs55909219
NM_000941.2(POR):c.-33G>T rs72553977
NM_000941.2(POR):c.-47A>C rs3823884
NM_000941.2(POR):c.-5G>A rs886062438
NM_000941.2(POR):c.-5G>C rs886062438
NM_000941.2(POR):c.-5G>T rs886062438
NM_000941.2(POR):c.-80A>C rs886062437
NM_000941.2(POR):c.1067-13C>G rs4732516
NM_000941.2(POR):c.1101T>A (p.Pro367=) rs782729580
NM_000941.2(POR):c.1104G>A (p.Thr368=) rs150414675
NM_000941.2(POR):c.1248+12C>T rs2286822
NM_000941.2(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.2(POR):c.1455T>C (p.Ala485=) rs2228104
NM_000941.2(POR):c.1475T>A (p.Val492Glu) rs28931606
NM_000941.2(POR):c.1501G>A (p.Glu501Lys) rs782697310
NM_000941.2(POR):c.1508C>T (p.Ala503Val) rs1057868
NM_000941.2(POR):c.1521C>T (p.Gly507=) rs370823127
NM_000941.2(POR):c.1564C>T (p.Arg522Cys) rs782533830
NM_000941.2(POR):c.158A>T (p.Glu53Val) rs376145249
NM_000941.2(POR):c.1594A>G (p.Ile532Val) rs886062442
NM_000941.2(POR):c.159A>C (p.Glu53Asp) rs370701548
NM_000941.2(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.2(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.2(POR):c.169T>C (p.Phe57Leu) rs782711779
NM_000941.2(POR):c.1702G>A (p.Gly568Ser) rs779082897
NM_000941.2(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.2(POR):c.1733A>G (p.Tyr578Cys) rs121912975
NM_000941.2(POR):c.1759A>G (p.Arg587Gly) rs781795917
NM_000941.2(POR):c.1764C>T (p.Asp588=) rs72557949
NM_000941.2(POR):c.1815+7C>T rs72557951
NM_000941.2(POR):c.1815+8G>A rs72557952
NM_000941.2(POR):c.1835_1858del24 (p.Leu612_Trp620delinsArg) rs786205876
NM_000941.2(POR):c.189-10T>C rs374111607
NM_000941.2(POR):c.1898+13G>T rs72557956
NM_000941.2(POR):c.1898+3G>A rs41301439
NM_000941.2(POR):c.1948G>A (p.Val650Met) rs148175064
NM_000941.2(POR):c.325G>A (p.Gly109Arg) rs372623440
NM_000941.2(POR):c.366+14G>A rs372941705
NM_000941.2(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.2(POR):c.387A>G (p.Pro129=) rs1135612
NM_000941.2(POR):c.399C>T (p.Asn133=) rs181837747
NM_000941.2(POR):c.517-14_517-13delCT rs72557912
NM_000941.2(POR):c.517-4G>A rs41299496
NM_000941.2(POR):c.571G>C (p.Val191Leu) rs201513102
NM_000941.2(POR):c.642-5C>G rs72555509
NM_000941.2(POR):c.731+1G>A rs786205099
NM_000941.2(POR):c.744C>T (p.Tyr248=) rs201786397
NM_000941.2(POR):c.830+15C>T rs540000393
NM_000941.2(POR):c.830+2dupT rs886062440
NM_000941.2(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_000941.2(POR):c.87G>A (p.Thr29=) rs41295381
NM_000941.2(POR):c.897C>T (p.Thr299=) rs180683888
NM_000941.2(POR):c.947+3A>G rs782232516
NM_000941.2(POR):c.948-14A>C rs886062441
NM_000941.3(POR):c.1329dup (p.Ile444Hisfs) rs786205875
NM_000941.3(POR):c.568_580dup (p.Arg194Leufs) rs786205878

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