List of variants reported for Axenfeld-Rieger syndrome type 3 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
NC_000006.12:g.(?_1610445)_(1612107_?)del
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs)	rs1057519471
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs)	rs1057519472
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter)	rs1057519482
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter)	rs760676014
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)	rs886039568
NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr)	rs1057519473
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp)	rs1057519474
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter)	rs1057519475
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro)	rs1057519476
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)	rs1057519478
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs)	rs1057519479
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)	rs1057519480
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs)	rs1057519481
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs)	rs2113110837
der(6)t(6;10)(p25.2;q26.3)

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