ClinVar Miner

List of variants studied for Rieger anomaly

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP
FOXC1, 11-BP DEL
FOXC1, 22-BP INS, NT26
FOXC1, DUP
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
NC_000004.12:g.(?_110618049)_(110622472_?)del
NC_000004.12:g.(?_110618105)_(110633018_?)del
NC_000004.12:g.(?_110618181)_(110621345_?)del
NM_000325.6(PITX2):c.*107A>C
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A
NM_000325.6(PITX2):c.*176A>T rs567517676
NM_000325.6(PITX2):c.*264A>C rs886059006
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*373_*375GTT[1] rs886059004
NM_000325.6(PITX2):c.*440C>T
NM_000325.6(PITX2):c.*454C>T rs6533526
NM_000325.6(PITX2):c.*471G>A rs75911264
NM_000325.6(PITX2):c.*522T>C rs188349821
NM_000325.6(PITX2):c.*572T>C rs886059003
NM_000325.6(PITX2):c.*611A>G rs886059002
NM_000325.6(PITX2):c.*687A>G
NM_000325.6(PITX2):c.*696A>C
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.264del (p.Lys89fs)
NM_000325.6(PITX2):c.282G>T (p.Arg94=)
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) rs104893857
NM_000325.6(PITX2):c.343_364del (p.Arg115fs) rs1057519483
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) rs1057519484
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) rs104893858
NM_000325.6(PITX2):c.361dup (p.Thr121fs) rs1553922891
NM_000325.6(PITX2):c.365G>A (p.Arg122His) rs104893861
NM_000325.6(PITX2):c.373del (p.Ile125fs)
NM_000325.6(PITX2):c.406G>C (p.Val136Leu) rs121909249
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) rs121909248
NM_000325.6(PITX2):c.411+1G>A
NM_000325.6(PITX2):c.411+2T>G rs1578450728
NM_000325.6(PITX2):c.411+5G>C rs1560590094
NM_000325.6(PITX2):c.412-11A>G rs1198152064
NM_000325.6(PITX2):c.412-11del rs886059007
NM_000325.6(PITX2):c.412-2A>G rs1553922583
NM_000325.6(PITX2):c.412-7C>T
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) rs772800095
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) rs387906810
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) rs1057519485
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) rs104893859
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) rs1057519486
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) rs1578446544
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) rs104893860
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn)
NM_000325.6(PITX2):c.714_735del (p.Thr239fs) rs1057519487
NM_000325.6(PITX2):c.784_785del (p.Ser262fs) rs1057519488
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) rs1057519489
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187
NM_000325.6(PITX2):c.916G>A (p.Val306Met) rs760790139
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)
NM_001453.3(FOXC1):c.-244C>T rs185790394
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) rs104893954
NM_001453.3(FOXC1):c.349del (p.Asp117fs) rs1554100953
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) rs104893958
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946
NM_018699.3(PRDM5):c.877A>G (p.Lys293Glu) rs779601690
NM_153427.2(PITX2):c.-1024G>A
NM_153427.2(PITX2):c.-1068C>T
NM_153427.2(PITX2):c.-1078C>A
NM_153427.2(PITX2):c.-1092G>A
NM_153427.2(PITX2):c.-1111C>G
NM_153427.2(PITX2):c.-1137G>A
NM_153427.2(PITX2):c.-1209C>T
NM_153427.2(PITX2):c.-1311G>T
NM_153427.2(PITX2):c.-1335C>A
NM_153427.2(PITX2):c.-1385+12T>C
NM_153427.2(PITX2):c.-1411C>T
NM_153427.2(PITX2):c.-1421G>C
NM_153427.2(PITX2):c.-1422C>A
NM_153427.2(PITX2):c.-1491G>A
NM_153427.2(PITX2):c.-1532C>A
NM_153427.2(PITX2):c.-211G>A
NM_153427.2(PITX2):c.-245G>A
NM_153427.2(PITX2):c.-270A>G
NM_153427.2(PITX2):c.-300A>T
NM_153427.2(PITX2):c.-362C>G
NM_153427.2(PITX2):c.-392G>T
NM_153427.2(PITX2):c.-40G>A
NM_153427.2(PITX2):c.-429C>G
NM_153427.2(PITX2):c.-436G>C
NM_153427.2(PITX2):c.-483C>T
NM_153427.2(PITX2):c.-485C>G
NM_153427.2(PITX2):c.-501T>G
NM_153427.2(PITX2):c.-515C>T
NM_153427.2(PITX2):c.-53G>A
NM_153427.2(PITX2):c.-670C>T
NM_153427.2(PITX2):c.-793C>A
NM_153427.2(PITX2):c.-79G>A
NM_153427.2(PITX2):c.-920C>T
NM_153427.2(PITX2):c.-966A>G
NM_153427.2(PITX2):c.-967C>T
NM_153427.2(PITX2):c.46+8C>G rs199896960
PITX2, 21-BP DUP, NT713

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