ClinVar Miner

List of variants reported as uncertain significance for Axenfeld-Rieger syndrome type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_153427.2(PITX2):c.-1137G>A rs141922822 0.00086
NM_153427.2(PITX2):c.-436G>C rs1026660025 0.00045
NM_000325.6(PITX2):c.*687A>G rs185925533 0.00043
NM_000325.6(PITX2):c.*522T>C rs188349821 0.00032
NM_153427.3(PITX2):c.-40G>A rs942688607 0.00016
NM_000325.6(PITX2):c.*176A>T rs567517676 0.00009
NM_000325.6(PITX2):c.*440C>T rs1301785358 0.00006
NM_153427.2(PITX2):c.-1421G>C rs758425186 0.00006
NM_153427.2(PITX2):c.-501T>G rs915152120 0.00006
NM_153427.2(PITX2):c.-270A>G rs1163979542 0.00005
NM_153427.2(PITX2):c.-1092G>A rs754809224 0.00004
NM_153427.2(PITX2):c.-920C>T rs779178803 0.00004
NM_000325.6(PITX2):c.*107A>C rs752553102 0.00003
NM_000325.6(PITX2):c.*264A>C rs886059006 0.00003
NM_000325.6(PITX2):c.*572T>C rs886059003 0.00002
NM_153427.2(PITX2):c.-1422C>A rs1423855887 0.00002
NM_153427.3(PITX2):c.-53G>A rs1388707841 0.00002
NM_000325.6(PITX2):c.*611A>G rs886059002 0.00001
NM_000325.6(PITX2):c.282G>T (p.Arg94=) rs768386257 0.00001
NM_000325.6(PITX2):c.412-7C>T rs762349019 0.00001
NM_153427.2(PITX2):c.-1411C>T rs1256005721 0.00001
NM_153427.2(PITX2):c.-1491G>A rs888167422 0.00001
NM_153427.2(PITX2):c.-483C>T rs1729689311 0.00001
NM_153427.2(PITX2):c.-966A>G rs1049702206 0.00001
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A rs1728830475
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*373GTT[1] rs886059004
NM_000325.6(PITX2):c.*696A>C rs1728803615
NM_000325.6(PITX2):c.412-11del rs886059007
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) rs746908680
NM_153427.2(PITX2):c.-1078C>A rs1309981396
NM_153427.2(PITX2):c.-1209C>T rs563409386
NM_153427.2(PITX2):c.-245G>A rs1729676876
NM_153427.2(PITX2):c.-300A>T rs1188264847
NM_153427.2(PITX2):c.-429C>G rs985015612
NM_153427.2(PITX2):c.-515C>T rs904945318
NM_153427.2(PITX2):c.-670C>T rs1017565030

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