ClinVar Miner

List of variants studied for Ornithine aminotransferase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000274.3(OAT):c.-94T>G rs4144117 0.82728
NM_000274.4(OAT):c.648+14A>G rs9422807 0.82463
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.34766
NM_000274.4(OAT):c.*185C>T rs2459216 0.10071
NM_000274.4(OAT):c.*535T>C rs8182 0.06407
NM_000274.4(OAT):c.-53C>T rs117824913 0.01420
NM_000274.4(OAT):c.200-10T>C rs80313473 0.00780
NM_000274.4(OAT):c.-30+8C>T rs552799531 0.00637
NM_000274.4(OAT):c.-38C>T rs9422945 0.00489
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00071
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000274.3(OAT):c.-83A>G rs969985784 0.00042
NM_000274.4(OAT):c.*61A>G rs530505560 0.00039
NM_000274.4(OAT):c.1015-6A>G rs561800688 0.00028
NM_000274.4(OAT):c.*311T>C rs753216934 0.00026
NM_000274.4(OAT):c.*561G>A rs375454907 0.00021
NM_000274.4(OAT):c.-12T>G rs775990544 0.00021
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00018
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00018
NM_000274.4(OAT):c.-4C>G rs372151002 0.00013
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00013
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00006
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000274.3(OAT):c.-104T>C rs886046813 0.00004
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 0.00002
NM_000274.4(OAT):c.*189A>G rs886046809 0.00001
NM_000274.4(OAT):c.*35C>T rs750628344 0.00001
NM_000274.4(OAT):c.*378A>G rs886046807 0.00001
NM_000274.4(OAT):c.*486A>G rs1377283827 0.00001
NM_000274.4(OAT):c.-60C>T rs886046812 0.00001
NM_000274.4(OAT):c.211T>C (p.Trp71Arg) rs780235906 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000274.4(OAT):c.*275A>G rs886046808
NM_000274.4(OAT):c.-30+11G>A rs886046811
NM_000274.4(OAT):c.-59G>C rs144950523
NM_000274.4(OAT):c.-66A>G rs1387021384
NM_000274.4(OAT):c.110C>T (p.Pro37Leu) rs747742850
NM_000274.4(OAT):c.1138A>G (p.Ile380Val) rs545710763
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu) rs1434415037
NM_000274.4(OAT):c.494A>C (p.Lys165Thr) rs1951665737
NM_000274.4(OAT):c.521-15_521-12del rs376636397
NM_000274.4(OAT):c.533G>C (p.Trp178Ser) rs267606923
NM_000274.4(OAT):c.604C>A (p.Pro202Thr) rs868567649
NM_000274.4(OAT):c.648+13C>A rs779470531
NM_000274.4(OAT):c.911T>A (p.Val304Glu) rs886046810

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