ClinVar Miner

List of variants in gene NR2F1 reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (729):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter) rs1297603674 0.00001
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter) rs763566932
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His) rs1753373048
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) rs1554075105
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly) rs2149946121
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs) rs2149941524
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter) rs2149941551
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) rs1753210329
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly)
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)
NM_005654.6(NR2F1):c.289C>G (p.His97Asp) rs1287146448
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) rs1287146448
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys) rs2149941603
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser) rs1554074677
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) rs1753211889
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu) rs2149941611
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg) rs863224903
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) rs1580358677
NM_005654.6(NR2F1):c.463+1G>A rs1753213365
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu) rs1753260850
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) rs1554074850
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) rs1580358347
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs) rs1753268855

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