ClinVar Miner

List of variants reported as likely pathogenic for Axenfeld-Rieger syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu) rs1581373871 0.00001
NC_000004.11:g.(?_111539261)_(111543636_?)del
NC_000004.12:g.(?_110618181)_(110621345_?)del
NC_000004.12:g.110650730_112833790del
NM_000325.6(PITX2):c.208A>T (p.Lys70Ter) rs2110435882
NM_000325.6(PITX2):c.296T>C (p.Phe99Ser)
NM_000325.6(PITX2):c.347_378del (p.Tyr116fs) rs2110435639
NM_000325.6(PITX2):c.361dup (p.Thr121fs) rs1553922891
NM_000325.6(PITX2):c.406G>T (p.Val136Phe)
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.418T>C (p.Phe140Leu)
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) rs1057519485
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_001453.3(FOXC1):c.1092dup (p.Cys365fs)
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs) rs1554101058
NM_001453.3(FOXC1):c.1157del (p.Gly386fs) rs1762550387
NM_001453.3(FOXC1):c.174del (p.Gly59fs) rs2113111101
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001453.3(FOXC1):c.263C>T (p.Thr88Ile) rs727503932
NM_001453.3(FOXC1):c.269C>T (p.Ala90Val)
NM_001453.3(FOXC1):c.315C>G (p.Tyr105Ter)
NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser) rs1581373773
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu) rs1085307884
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.407T>C (p.Phe136Ser)
NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys) rs886041355
NM_001453.3(FOXC1):c.470A>T (p.Asp157Val)
NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter) rs867581817
NM_001453.3(FOXC1):c.502del (p.Leu168fs)
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup) rs1183655796

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