ClinVar Miner

List of variants in gene OAT reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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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.1192C>T (p.Arg398Ter) rs200068769 0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn) rs386833598 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
NM_000274.4(OAT):c.796C>T (p.Gln266Ter) rs1951458291 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.881T>A (p.Leu294His) rs752974288 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NC_000010.10:g.(?_126086501)_(126086681_?)del
NC_000010.10:g.(?_126089399)_(126089563_?)del
NC_000010.10:g.(?_126093995)_(126100239_?)del
NC_000010.10:g.(?_126097101)_(126097544_?)del
NC_000010.10:g.(?_126097101)_(126100750_?)del
NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del
NM_000274.4(OAT):c.1001dup (p.Ala335fs) rs2134452962
NM_000274.4(OAT):c.1078del (p.Leu360fs) rs1951389692
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) rs121965045
NM_000274.4(OAT):c.1140del (p.Ile380fs)
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter) rs1285313333
NM_000274.4(OAT):c.1159+1G>A rs2134450136
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter) rs2134440659
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs) rs2134440572
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.1253_1260dup (p.Lys421delinsTrpTer) rs2134440057
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) rs121965058
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.198del (p.Gly67fs) rs1432416419
NM_000274.4(OAT):c.199+303C>G rs386833601
NM_000274.4(OAT):c.1A>G (p.Met1Val) rs1283361732
NM_000274.4(OAT):c.1del (p.Met1fs)
NM_000274.4(OAT):c.200-36_222del rs1564737136
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.304_305del (p.Lys102fs) rs2134478524
NM_000274.4(OAT):c.3G>A (p.Met1Ile) rs121965034
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.426del (p.Val143fs)
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
NM_000274.4(OAT):c.49_52dup (p.Val18fs) rs1554867854
NM_000274.4(OAT):c.515_516del (p.Phe172fs) rs2134476898
NM_000274.4(OAT):c.525del (p.Asn176fs)
NM_000274.4(OAT):c.533G>A (p.Trp178Ter) rs267606923
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.4(OAT):c.534G>A (p.Trp178Ter) rs890106099
NM_000274.4(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.4(OAT):c.546_649-726del rs2134462662
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.576del (p.Ser193fs) rs2134465433
NM_000274.4(OAT):c.591dup (p.Gly198fs)
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) rs121965056
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000274.4(OAT):c.776del (p.Leu259fs) rs2134456729
NM_000274.4(OAT):c.780del (p.Phe260fs) rs2134456707
NM_000274.4(OAT):c.783del (p.Ile261fs) rs1195885907
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.896dup (p.Tyr299Ter) rs2134456170
NM_000274.4(OAT):c.899C>T (p.Pro300Leu) rs759979499
NM_000274.4(OAT):c.900+1G>A rs1589700702
NM_000274.4(OAT):c.952del (p.Glu318fs) rs386833620
NM_000274.4(OAT):c.955C>T (p.His319Tyr) rs121965049
NM_000274.4(OAT):c.966del (p.Tyr323fs) rs1951417940
NM_000274.4(OAT):c.97dup (p.Thr33fs) rs1375779674
NM_000274.4(OAT):c.988_991dup (p.Arg331fs)
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047

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