ClinVar Miner

List of variants in gene OAT reported as pathogenic by OMIM

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.539G>C (p.Arg180Thr) rs121965040 0.00008
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) rs267606925 0.00003
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000274.4(OAT):c.163T>C (p.Tyr55His) rs121965037 0.00001
NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) rs121965045
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.4(OAT):c.1180T>C (p.Cys394Arg) rs121965054
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter) rs121965055
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro) rs121965043
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) rs121965058
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.199+303C>G rs386833601
NM_000274.4(OAT):c.268C>G (p.Gln90Glu) rs121965060
NM_000274.4(OAT):c.278G>T (p.Cys93Phe) rs121965038
NM_000274.4(OAT):c.3G>A (p.Met1Ile) rs121965034
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.533G>A (p.Trp178Ter) rs267606923
NM_000274.4(OAT):c.550G>A (p.Ala184Thr) rs121965050
NM_000274.4(OAT):c.550_552del (p.Ala184del) rs121965035
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) rs121965056
NM_000274.4(OAT):c.808G>C (p.Ala270Pro) rs121965041
NM_000274.4(OAT):c.812G>A (p.Arg271Lys) rs121965042
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) rs267606924
NM_000274.4(OAT):c.955C>T (p.His319Tyr) rs121965049
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047

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