ClinVar Miner

List of variants studied for syndromic microphthalmia type 5

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_021728.4(OTX2):c.*779G>A rs138197536 0.00041
NM_021728.4(OTX2):c.*667A>C rs184421963 0.00024
NM_021728.4(OTX2):c.*647A>G rs886050557 0.00023
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_021728.4(OTX2):c.*764G>A rs775857186 0.00014
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn) rs150982073 0.00013
NM_021728.4(OTX2):c.-119-65G>T rs886050561 0.00010
NM_021728.4(OTX2):c.*219G>A rs886050559 0.00003
NM_021728.4(OTX2):c.713A>T (p.His238Leu) rs144449264 0.00003
NM_021728.4(OTX2):c.*1018T>C rs1594950988 0.00001
NM_021728.4(OTX2):c.*147G>T rs1478094910 0.00001
NM_021728.4(OTX2):c.*543A>G rs948990605 0.00001
NM_021728.4(OTX2):c.*648C>A rs886050556 0.00001
GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1
NM_021728.4(OTX2):c.*648C>G rs886050556
NM_021728.4(OTX2):c.*933C>T rs886050555
NM_021728.4(OTX2):c.*993G>C rs1891845026
NM_021728.4(OTX2):c.150G>C (p.Arg50Ser)
NM_021728.4(OTX2):c.245_260del (p.Lys82fs) rs1566624472
NM_021728.4(OTX2):c.259G>A (p.Glu87Lys) rs786205224
NM_021728.4(OTX2):c.278G>C (p.Trp93Ser) rs2139529394
NM_021728.4(OTX2):c.278G>T (p.Trp93Leu) rs2139529394
NM_021728.4(OTX2):c.289C>G (p.Arg97Gly) rs104894464
NM_021728.4(OTX2):c.289C>T (p.Arg97Ter) rs104894464
NM_021728.4(OTX2):c.294A>T (p.Arg98Ser) rs1566623392
NM_021728.4(OTX2):c.316del (p.Gln106fs) rs786205884
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln) rs199799627
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) rs199799627
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu) rs199799627
NM_021728.4(OTX2):c.428_429dup (p.Ser144fs) rs1566623121
NM_021728.4(OTX2):c.437C>G (p.Ser146Ter) rs786205879
NM_021728.4(OTX2):c.439G>A (p.Val147Ile)
NM_021728.4(OTX2):c.487_488dup (p.Ser164fs) rs786205873
NM_021728.4(OTX2):c.561T>A (p.Tyr187Ter) rs104894465
NM_021728.4(OTX2):c.586G>T (p.Gly196Ter) rs397514463
NM_021728.4(OTX2):c.591T>G (p.Tyr197Ter)
NM_021728.4(OTX2):c.634_640del (p.Tyr212fs) rs2139528313
NM_021728.4(OTX2):c.673del (p.Ala225fs) rs1566622571
NM_021728.4(OTX2):c.677_678insTGTG (p.Leu227fs)
NM_021728.4(OTX2):c.706_725del (p.Thr236fs)
NM_021728.4(OTX2):c.728dup (p.Ala244fs) rs2139527991
NM_021728.4(OTX2):c.749del (p.Gly250fs) rs1594952111
NM_021728.4(OTX2):c.781_784del (p.Thr261fs) rs1555350156
NM_021728.4(OTX2):c.811del (p.Thr271fs) rs1594952007
NM_021728.4(OTX2):c.81del (p.Ser28fs) rs786205874
NM_021728.4(OTX2):c.96G>T (p.Pro32=) rs1892046623
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs) rs1555350223

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