ClinVar Miner

List of variants reported as pathogenic for Axenfeld-Rieger syndrome type 1

Included ClinVar conditions (2):
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Total variants: 16
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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.161T>A (p.Leu54Gln) rs104893857
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.202A>C (p.Thr68Pro) rs104893858
NM_153427.2(PITX2):c.247G>C (p.Val83Leu) rs121909249
NM_153427.2(PITX2):c.252+5G>C
NM_153427.2(PITX2):c.253-11A>G
NM_153427.2(PITX2):c.262A>G (p.Lys88Glu) rs387906810
NM_153427.2(PITX2):c.272G>C (p.Arg91Pro) rs104893859
NM_153427.2(PITX2):c.399G>A (p.Trp133Ter) rs104893860
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
PITX2, 21-BP DUP, NT713

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