ClinVar Miner

List of variants studied for Axenfeld-Rieger syndrome type 1 by Molecular Pathology, SA Pathology

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
NC_000004.12:g.(?_110618049)_(110622472_?)del
NM_153427.2(PITX2):c.184_205del22 (p.Arg62Alafs) rs1057519483
NM_153427.2(PITX2):c.191C>T (p.Pro64Leu) rs1057519484
NM_153427.2(PITX2):c.271C>G (p.Arg91Gly) rs1057519485
NM_153427.2(PITX2):c.274G>C (p.Ala92Pro) rs1057519486
NM_153427.2(PITX2):c.555_576del22 (p.Thr186Serfs) rs1057519487
NM_153427.2(PITX2):c.625_626delTC (p.Ser209Argfs) rs1057519488
NM_153427.2(PITX2):c.648T>A (p.Cys216Ter) rs1057519489

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