ClinVar Miner

List of variants reported as benign for Axenfeld-Rieger syndrome by Invitae

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.1563T>G (p.Ser521=) rs73406891 0.03175
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096 0.03096
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_153426.3(PITX2):c.46+8_46+9insTT rs571056388 0.01006
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=) rs76166083 0.00259
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=) rs767285866 0.00177
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_001453.3(FOXC1):c.207G>T (p.Pro69=) rs35974174 0.00112
NM_001453.3(FOXC1):c.921C>T (p.Gly307=) rs369300819 0.00105
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=) rs147749489 0.00077
NM_000325.6(PITX2):c.206-9C>T rs367757020 0.00046
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370 0.00016
NM_001453.3(FOXC1):c.279C>T (p.Asn93=) rs141798688 0.00012
NM_001453.3(FOXC1):c.333C>T (p.Arg111=) rs547414473 0.00001
NM_001453.3(FOXC1):c.600G>C (p.Gln200His) rs549370363 0.00001
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1464GGC[3] (p.Ala493_Ala495del) rs747574884
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
NM_001453.3(FOXC1):c.573C>T (p.Leu191=) rs545282380
NM_001453.3(FOXC1):c.639G>T (p.Ala213=)
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843

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