ClinVar Miner

List of variants studied for Axenfeld-Rieger syndrome type 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NC_000004.12:g.110632944_110632945insAA rs571056388 0.01006
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_000325.6(PITX2):c.206-9C>T rs367757020 0.00046
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_000325.6(PITX2):c.206-8G>C rs373965144 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_000325.6(PITX2):c.816G>A (p.Ala272=) rs778779105 0.00007
NM_000325.6(PITX2):c.916G>A (p.Val306Met) rs760790139 0.00001
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn) rs571758306 0.00001
NC_000004.11:g.(?_111539261)_(111543636_?)del
NC_000004.11:g.(?_111539281)_(111554154_?)del
NC_000004.12:g.(?_110618105)_(110633018_?)del
NC_000004.12:g.(?_110618181)_(110621345_?)del
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.242T>G (p.Val81Gly)
NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)
NM_000325.6(PITX2):c.264del (p.Lys89fs) rs1729007624
NM_000325.6(PITX2):c.286C>T (p.Arg96Trp) rs2110435742
NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)
NM_000325.6(PITX2):c.316G>T (p.Glu106Ter) rs1051887
NM_000325.6(PITX2):c.350C>G (p.Pro117Arg)
NM_000325.6(PITX2):c.361dup (p.Thr121fs) rs1553922891
NM_000325.6(PITX2):c.373del (p.Ile125fs) rs1729001104
NM_000325.6(PITX2):c.376G>A (p.Ala126Thr) rs2110435645
NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) rs1729000976
NM_000325.6(PITX2):c.411+2T>G rs1578450728
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) rs1057519485
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) rs104893859
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)
NM_000325.6(PITX2):c.489C>T (p.Phe163=)
NM_000325.6(PITX2):c.515del (p.Gln172fs)
NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) rs951710742
NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) rs1728873590
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) rs1578446544
NM_000325.6(PITX2):c.588A>C (p.Leu196=)
NM_000325.6(PITX2):c.592A>T (p.Thr198Ser) rs2110431786
NM_000325.6(PITX2):c.633C>T (p.Pro211=)
NM_000325.6(PITX2):c.634C>T (p.Leu212=)
NM_000325.6(PITX2):c.697A>G (p.Met233Val)
NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer) rs2110431524
NM_000325.6(PITX2):c.927G>A (p.Pro309=)

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