ClinVar Miner

List of variants studied for anterior segment dysgenesis 3

Included ClinVar conditions (2):
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr) rs535065221 0.00011
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447 0.00008
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg) rs1413102496 0.00007
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val) rs767729842 0.00007
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg) rs901581290 0.00007
NM_001453.3(FOXC1):c.351C>T (p.Asp117=) rs1391853754 0.00006
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr) rs281865460 0.00003
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827 0.00003
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser) rs772035500 0.00002
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg) rs908841297 0.00002
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe) rs775681400 0.00002
NM_001453.3(FOXC1):c.1015T>C (p.Ser339Pro) rs1422224202 0.00001
NM_001453.3(FOXC1):c.363C>T (p.Gly121=) rs752309038 0.00001
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser) rs1331057949 0.00001
FOXC1, 22-BP INS, NT26
FOXC1, DUP
GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3
NM_001453.3(FOXC1):c.-244C>T rs185790394
NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser)
NM_001453.3(FOXC1):c.1040dup (p.Leu348fs)
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del) rs76840944
NM_001453.3(FOXC1):c.1157del (p.Gly386fs) rs1762550387
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3]) rs1462344492
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val) rs1056318557
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del) rs1208223684
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
NM_001453.3(FOXC1):c.153_163del (p.His52fs) rs2113111009
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs) rs1762565496
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser) rs1481638796
NM_001453.3(FOXC1):c.200A>G (p.Tyr67Cys)
NM_001453.3(FOXC1):c.235C>A (p.Pro79Thr)
NM_001453.3(FOXC1):c.241_243del (p.Tyr81del) rs2113111273
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) rs104893954
NM_001453.3(FOXC1):c.337_339dup (p.Pro113dup) rs2113111517
NM_001453.3(FOXC1):c.349del (p.Asp117fs) rs1554100953
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) rs104893958
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.398_401del (p.Asn133fs) rs2113111662
NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser) rs777521814
NM_001453.3(FOXC1):c.454T>C (p.Trp152Arg) rs2113111766
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del) rs774823663
NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del) rs567719270
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del) rs761199025
NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup) rs761199025
NM_001453.3(FOXC1):c.89C>T (p.Ala30Val) rs1762516271
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608

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